Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC8A3	6547	broad.mit.edu	37	14	70512693	70512693	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70512693C>T	uc001xly.3	-	7	3509	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	SLC8A3_uc001xlv.3_Missense_Mutation_p.E290K|SLC8A3_uc001xlu.3_Missense_Mutation_p.E276K|SLC8A3_uc001xlw.3_Missense_Mutation_p.E916K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E917K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E913K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	919					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAATAGGCCTCTAGTGTGGCA	0.582000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			9		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486352	8486352	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8486352T>C	uc001mgi.1	-	2	1276	c.357A>G	c.(355-357)ggA>ggG	p.G119G	STK33_uc001mgj.1_Silent_p.G119G|STK33_uc001mgk.1_Silent_p.G119G|STK33_uc010rbn.1_Silent_p.G78G|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	119	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CCAATATTCTTCCAAAGGTAT	0.338000														50			9		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793949	38793949	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38793949G>A	uc003ciq.3	-	10	1516	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	506					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)	GACCGGAAATGGAACACACTG	0.567000														7			25		0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119631642	119631642	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:119631642G>A	uc003edo.3	-	5	1607	c.624C>T	c.(622-624)gtC>gtT	p.V208V	GSK3B_uc003edn.3_Silent_p.V208V	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	208	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTTCTCCTCGGACCAGCTGCT	0.363000														0			29		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242138764	242138764	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242138764T>C	uc002wax.2	+	4	608	c.505T>C	c.(505-507)Tac>Cac	p.Y169H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	169						cell junction|chloride channel complex|cytosol	chloride channel activity	p.Y169Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CACAGTGCACTACGCCCTCCT	0.632000														37			15		0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058287	19058287	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:19058287T>C	uc003znk.3	-	15	2731	c.2478A>G	c.(2476-2478)tcA>tcG	p.S826S	HAUS6_uc011lmz.2_Silent_p.S546S|HAUS6_uc022bdv.1_Silent_p.S690S|HAUS6_uc003znl.1_Silent_p.S690S	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	826					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATTAAAGTCTGATTCTGGAG	0.443000														71			27		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227745	28227745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28227745G>A	uc003nkt.3	+	0	648	c.596G>A	c.(595-597)aGg>aAg	p.R199K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	199	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAAGCATAGGAAATATTCT	0.343000														46			10		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225378270	225378270	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:225378270A>T	uc010fwy.1	-	4	696	c.643T>A	c.(643-645)Ttt>Att	p.F215I	CUL3_uc010zls.1_Missense_Mutation_p.F143I|CUL3_uc002vny.2_Missense_Mutation_p.F209I	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	209					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTTCCAAAAAAGGAGCCTCA	0.303000														26			9		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148882323	148882323	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:148882323C>T	uc009wkv.1	+	3		c.352C>T								Homo sapiens cDNA, FLJ17483.																		TCAGTGTTACCATCCATACTG	0.368000														63			21		0	0	1	0	0
MIR519D	574480	broad.mit.edu	37	19	54216624	54216624	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54216624G>A	uc021vaf.1	+	0		c.24G>A								Homo sapiens microRNA 519d (MIR519D), microRNA.																		CCCTCCAAAGGGAAGCGCTTT	0.428000														148			19		0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959215	10959215	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10959215A>G	uc010shh.2	-	0	365	c.365T>C	c.(364-366)cTg>cCg	p.L122P		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	122					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCCACTTCAGCCAGAGAAA	0.423000														50			4		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102828613	102828613	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102828613C>T	uc002tbs.3	+	5	829	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	IL1RL2_uc002tbt.3_Missense_Mutation_p.H117Y	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	235	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCAAAAAATCATTCAATTGA	0.348000														27			9		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906379	906379	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:906379C>T	uc001ace.3	+	4	760	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PLEKHN1_uc001acd.3_Missense_Mutation_p.P202L|PLEKHN1_uc001acf.3_Missense_Mutation_p.P202L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	242										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACTCGGCACCCCCACAGGTC	0.726000														9			16		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070153	197070153	+	Missense_Mutation	SNP	C	T	T	rs141485415	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197070153C>T	uc001gtu.3	-	17	8485	c.8228G>A	c.(8227-8229)cGa>cAa	p.R2743Q	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.R591Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2743	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R2743Q(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAATAGTTCGTACAGATTT	0.333000														26			6		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23398558	23398558	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23398558C>T	uc001whm.1	-	0	104	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	PRMT5_uc001whl.1_5'UTR|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tnh.1_Missense_Mutation_p.A5T|PRMT5_uc010tng.1_5'UTR|PRMT5_uc001whn.1_5'UTR|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	5					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.A5A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CCCCCGACCGCCATCGCCGCC	0.617000														14			10		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867202	5867202	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5867202A>C	uc002mdo.4	-	1	706	c.535T>G	c.(535-537)Ttc>Gtc	p.F179V	FUT5_uc010duo.3_Missense_Mutation_p.F179V|FUT5_uc021uno.1_Missense_Mutation_p.F179V	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	179					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TAGGGCGTGAAGATGTCGGAG	0.647000														51			14		0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963620	7963620	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7963620A>C	uc002mir.3	+	2	314	c.213A>C	c.(211-213)caA>caC	p.Q71H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	71						integral to membrane		p.Q70P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGCCAGCAATTGCTGCCTC	0.517000														165			38		0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93722057	93722057	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:93722057A>G	uc021opx.1	+	24	3669	c.3508A>G	c.(3508-3510)Agt>Ggt	p.S1170G	CCDC18_uc001dpr.1_Missense_Mutation_p.S83G	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	1169										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGGCTCTCTAGTGAACTGGA	0.393000														96			4		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68529011	68529011	+	Missense_Mutation	SNP	G	T	T	rs75908421		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68529011G>T	uc001oog.4	-	15	2190	c.2020C>A	c.(2020-2022)Ctt>Att	p.L674I	CPT1A_uc001oof.4_Missense_Mutation_p.L674I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	674					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTCCTTAAGGAAAGGGGAC	0.448000														69			57		1.59911e-31	1.61332e-31	1	1	0
USH2A	7399	broad.mit.edu	37	1	216052310	216052310	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:216052310G>A	uc001hku.1	-	41	8741	c.8354C>T	c.(8353-8355)cCt>cTt	p.P2785L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2785	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTAGTGAAAGGAATCAGATG	0.443000										HNSCC(13;0.011)				71			51		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016905	23016905	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23016905T>C	uc002wsr.2	+	0	849	c.785T>C	c.(784-786)cTg>cCg	p.L262P		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	262					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.L262L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGGCTGGTGCTGATGGTCGTG	0.617000														109			6		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41779941	41779941	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41779941C>T	uc002oqb.4	+	3	916	c.627C>T	c.(625-627)acC>acT	p.T209T	HNRNPUL1_uc002opz.4_Silent_p.T109T|HNRNPUL1_uc002oqa.4_Silent_p.T109T|HNRNPUL1_uc010ehm.3_Silent_p.T209T|HNRNPUL1_uc002oqc.4_Silent_p.T166T|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Silent_p.T109T|HNRNPUL1_uc010ehn.3_Silent_p.T109T|HNRNPUL1_uc010xvy.2_Silent_p.T109T|HNRNPUL1_uc010ehp.3_Silent_p.T65T|HNRNPUL1_uc010ehl.1_Silent_p.T109T	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	209	B30.2/SPRY.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGATGATACCCTTGTTGCTA	0.458000														52			13		0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103236285	103236285	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:103236285T>A	uc022azl.1	-	4	764	c.755A>T	c.(754-756)aAa>aTa	p.K252I	RRM2B_uc003ykn.3_Missense_Mutation_p.K180I|RRM2B_uc010mbv.2_Missense_Mutation_p.K128I|RRM2B_uc003yko.3_Non-coding_Transcript|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	180					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AAAAGTAGATTTTCTATCTGC	0.343000								Modulation of nucleotide pools						131			41		0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39263048	39263048	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:39263048G>A	uc003awl.3	-	4	468	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	135					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGTCCGGGCGGGGCAGGGGAC	0.721000														21			13		0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15405186	15405186	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:15405186A>C	uc003stb.1	-	11	1386	c.1216T>G	c.(1216-1218)Ttt>Gtt	p.F406V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	406					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.R405Q(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AGGTGACCAAATCGGTACAGC	0.403000														40			6		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225609	61225609	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61225609C>T	uc010xeo.2	+	1	193	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	SERPINB12_uc010xen.2_Nonsense_Mutation_p.Q65*	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	65					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CGAATTTTCCCAGAATGAAAG	0.428000														3			41		0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139973505	139973505	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139973505G>A	uc010ncb.3	+	3	780	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	UAP1L1_uc004cla.4_Missense_Mutation_p.V127M	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 (UAP1L1), mRNA.	250							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGTGGAGTTTGTGCACGTGTA	0.622000														46			15		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179314	87179314	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:87179314G>A	uc003uiz.2	-	13	1900	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	ABCB1_uc011khc.2_Silent_p.I405I	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	469	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCACACCAATGATTTCCCGTA	0.398000														64			44		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970694	115970694	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:115970694C>T	uc001lbg.1	+	12	1781	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	TDRD1_uc001lbf.3_Missense_Mutation_p.A534V|TDRD1_uc001lbh.1_Missense_Mutation_p.A534V|TDRD1_uc001lbi.1_Missense_Mutation_p.A534V|TDRD1_uc010qsc.2_Missense_Mutation_p.A204V|TDRD1_uc001lbj.3_Missense_Mutation_p.A252V	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	543	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTTATCCAGCCATTGGTGAT	0.343000														1			27		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360843	52360843	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52360843A>G	uc011bef.2	+	4	935	c.674A>G	c.(673-675)cAc>cGc	p.H225R	DNAH1_uc003ddt.1_Missense_Mutation_p.H225R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	225	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTGGACCACCAGCACCCC	0.577000														19			8		0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894838	48894838	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48894838A>C	uc003gyt.3	-	5	537	c.334T>G	c.(334-336)Ttt>Gtt	p.F112V	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	112	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TCTTCAAAAAAATGGAATTTA	0.398000														153			17		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35806465	35806465	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35806465G>A	uc003zyd.3	+	15	2449	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	NPR2_uc010mlb.3_Missense_Mutation_p.E793K	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	817					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAAGCTGGTGGAGGAACGCAC	0.532000														19			21		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5969004	5969004	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:5969004T>G	uc003zjq.4	-	2	1443	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	409										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGGATTAACTTCTCCAAGAA	0.383000														17			3		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52317573	52317573	+	Missense_Mutation	SNP	C	T	T	rs139197513		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:52317573C>T	uc003pap.4	+	3	876	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	EFHC1_uc011dwv.1_Missense_Mutation_p.R130C|EFHC1_uc011dww.2_Missense_Mutation_p.R202C	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	221			R -> H (in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E).			axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGCCTCTTCGTAAGTATGT	0.383000														102			30		0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33543169	33543169	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33543169T>C	uc003oes.3	-	3	556	c.256A>G	c.(256-258)Aac>Gac	p.N86D	BAK1_uc003oer.3_Missense_Mutation_p.N16D|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Missense_Mutation_p.N86D|BAK1_uc003oeu.3_Missense_Mutation_p.N27D|BAK1_uc011drj.1_Missense_Mutation_p.N86D	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	86					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TAGCGTCGGTTGATGTCGTCC	0.597000														38			32		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052501	15052501	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15052501C>T	uc010xoc.2	+	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CCAACCTGTCCTTTGCTGACA	0.483000														34			35		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183521773	183521773	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183521773A>C	uc003fly.2	+	27	3778	c.3583_splice	c.e27-2	p.W1195_splice	AX746590_uc003fma.1_Splice_Site	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1195					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTTTTTTTAAGTGGCAAAGA	0.388000														103			8		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789661	73789661	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73789661A>G	uc001ouu.2	-	22	4329	c.4102T>C	c.(4102-4104)Tcc>Ccc	p.S1368P	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1368						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCGTGAAGGAAATCGAAAGC	0.502000														54			49		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50031825	50031825	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50031825G>A	uc004dox.4	+	3	440	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CCNB3_uc004doy.3_Missense_Mutation_p.E48K|CCNB3_uc004doz.3_Missense_Mutation_p.E48K|CCNB3_uc010njq.3_5'UTR	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	48					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTCACTTCAGGAGTCTCCATC	0.403000														1			14		0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95782666	95782666	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95782666T>G	uc004asz.2	+	12	1982	c.1454T>G	c.(1453-1455)tTc>tGc	p.F485C	FGD3_uc004asw.2_Missense_Mutation_p.F485C|FGD3_uc004asx.2_Missense_Mutation_p.F485C|FGD3_uc004ata.3_Missense_Mutation_p.F288C|FGD3_uc011luc.1_Missense_Mutation_p.F88C	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	485					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGTGGCGCCTTCAGCCAGGAT	0.572000														15			9		0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44922337	44922337	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44922337T>G	uc003oxp.3	-	7	754	c.588A>C	c.(586-588)aaA>aaC	p.K196N	SUPT3H_uc003oxn.1_Missense_Mutation_p.K196N|SUPT3H_uc003oxo.3_Missense_Mutation_p.K207N|SUPT3H_uc011dvv.2_Missense_Mutation_p.K44N|SUPT3H_uc011dvw.2_Missense_Mutation_p.K110N	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	278					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTTGGAAGCTTTTTTGGCTG	0.328000														49			18		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795220	9795220	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9795220C>T	uc001aqh.3	-	13	2655	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	CLSTN1_uc001aqi.3_Silent_p.E622E|CLSTN1_uc010oag.2_Silent_p.E613E|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	632					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGGTGGCCTCGTTAAAAC	0.577000														114			65		0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73579311	73579311	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:73579311G>A	uc001jsm.3	-	10	1365	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	421	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCCAGGTTGCGATCCAAATAA	0.567000														0			39		0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18456398	18456398	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18456398A>G	uc001mon.4	+	4	642	c.530A>G	c.(529-531)aAg>aGg	p.K177R	LDHC_uc001mom.4_Missense_Mutation_p.K177R|LDHC_uc009yhp.3_Missense_Mutation_p.K177R|LDHC_uc001moo.4_Missense_Mutation_p.K61R|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_Missense_Mutation_p.K61R	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	177					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATTGGAGAAAAGTTGGGTGTC	0.408000														125			11		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14574746	14574746	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14574746T>C	uc002myp.3	+	10	1770	c.1602T>C	c.(1600-1602)ccT>ccC	p.P534P	PKN1_uc002myq.3_Silent_p.P540P	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	534					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTTAGCCCTGGGGCTTCTC	0.667000														43			4		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204399104	204399104	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204399104T>G	uc001haw.3	-	29	4822	c.4343A>C	c.(4342-4344)gAg>gCg	p.E1448A	PIK3C2B_uc010pqv.2_Missense_Mutation_p.E1420A	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1448	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTAGCTCCTCCCTCCGCCG	0.682000														82			18		0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65178737	65178737	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65178737C>T	uc001odu.4	+	10	1493	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L	FRMD8_uc009yqj.3_Missense_Mutation_p.P378L|FRMD8_uc010rof.2_Missense_Mutation_p.P400L	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	434						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGAGTGAAGCCGAAGCGCACC	0.672000														22			8		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:14412356C>T	uc003wwq.3	-	1	779	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_uc010lss.3_Missense_Mutation_p.G27E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000														86			92		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085186	87085186	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:87085186T>G	uc002srw.3	-	1	456	c.397A>C	c.(397-399)Agt>Cgt	p.S133R	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.S133R|CD8B_uc002sry.3_Missense_Mutation_p.S133R|CD8B_uc010fgt.3_Missense_Mutation_p.S133R|CD8B_uc002srz.3_Missense_Mutation_p.S133R|CD8B_uc010yto.2_Missense_Mutation_p.S133R	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	133					T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTACCCACACTCAGCTGAGTT	0.572000														135			7		0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127101922	127101923	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127101922_127101923CC>TT	uc004boh.3	+	8	1058_1059	c.797_798CC>TT	c.(796-798)tcc>tTT	p.S266F	NEK6_uc004bof.3_Missense_Mutation_p.S250F|NEK6_uc004bog.3_Missense_Mutation_p.S232F|NEK6_uc010mwk.3_Missense_Mutation_p.S232F|NEK6_uc022bnf.1_Missense_Mutation_p.S266F|NEK6_uc004boi.3_Missense_Mutation_p.S232F|NEK6_uc022bng.1_Missense_Mutation_p.S257F	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	232	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GACATCTGGTCCCTGGGCTGTC	0.599000														69			25		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70733529	70733529	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70733529G>A	uc003pfc.1	+	11	1154	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	COL19A1_uc010kam.2_Missense_Mutation_p.G242E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	346	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTGAACAAGGAGAAAAAGGA	0.318000														3			15		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002225	98002225	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:98002225A>T	uc003dsj.1	+	0	494	c.494A>T	c.(493-495)gAa>gTa	p.E165V		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTAATTCATGAAGTCCTTATA	0.348000														11			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141200149	141200149	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141200149C>T	uc002tvj.1	-	65	11310	c.10338G>A	c.(10336-10338)acG>acA	p.T3446T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3446	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCAATGCTTCGTAGTCTTAC	0.428000										TSP Lung(27;0.18)				50			19		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920092	10920092	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10920092G>A	uc002yip.1	-	18	1530	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P370S|TPTE_uc002yir.1_Missense_Mutation_p.P350S|TPTE_uc010gkv.1_Missense_Mutation_p.P250S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	388	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACCTGAGAAGGAGTTTTTACT	0.378000														31			11		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379409	121379409	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:121379409G>A	uc003yox.3	+	46	5343	c.5078_splice	c.e46-1	p.G1693_splice	COL14A1_uc003yoz.3_Splice_Site_p.G658_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1693	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			attttaaaCAGGTCTAACTGG	0.383000														8			8		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671844	176671844	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176671844C>T	uc001gkz.3	+	8	4502	c.3338C>T	c.(3337-3339)cCt>cTt	p.P1113L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1113					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						CATGGAGCTCCTTATTGTGGA	0.502000														36			30		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769711	247769711	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247769711C>T	uc010pyz.2	+	0	824	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGTTTATCTCCCTCTTCTAC	0.443000														27			34		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782406	107782406	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:107782406C>T	uc003ymm.4	-	0	67	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	5					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.E5K(2)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTCCTTTTCGCCCGGAGCC	0.592000														43			15		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596263	97596263	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:97596263C>T	uc003drx.3	+	0	445	c.381C>T	c.(379-381)gcC>gcT	p.A127A	CRYBG3_uc021xbn.1_Silent_p.A127A					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CAGTGGAGGCCAAAAGGTACA	0.398000														25			17		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628585	51628585	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51628585C>T	uc010yct.2	+	0	449	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SIGLEC9_uc002pvu.3_Silent_p.F118F	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	118	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAGATACTTCTTTCGTATGG	0.498000														38			47		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570082	25570082	+	Missense_Mutation	SNP	C	T	T	rs150313483		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:25570082C>T	uc002kwg.2	-	9	2036	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	CDH2_uc010xbn.1_Missense_Mutation_p.R495Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	526	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCATATATCGATCTGGGTC	0.378000														47			18		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101911	47101911	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:47101911C>T	uc002ldv.3	+	4	996	c.744C>T	c.(742-744)ttC>ttT	p.F248F	LIPG_uc002ldu.1_Silent_p.F248F|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	248					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGGGTGACTTCCAGCCAGGCT	0.493000														17			15		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190996	42190996	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42190996T>G	uc002ori.1	-	1	223	c.221A>C	c.(220-222)cAt>cCt	p.H74P	CEACAM7_uc010ehx.2_Missense_Mutation_p.H74P|CEACAM7_uc010ehy.1_Missense_Mutation_p.H74P	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	74	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATAGTTGGCATGCACCCTTTC	0.458000														171			24		0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268969	22268969	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:22268969C>T	uc002dki.3	+	8	1392	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	303	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.R303C(3)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CACAGGTGTCCGCGGGATGGC	0.602000														46			27		0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196214354	196214354	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196214354T>G	uc003fwq.3	-	2	1069	c.474A>C	c.(472-474)aaA>aaC	p.K158N	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	158	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGCCTGTCTTTTTTCCTCTT	0.458000														386			51		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373801	138373801	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:138373801G>A	uc002tva.1	+	16	3390	c.3390G>A	c.(3388-3390)ctG>ctA	p.L1130L	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCATCACTGAACTCAAGGA	0.438000														80			31		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183274	55183274	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:55183274C>T	uc010wnl.2	+	2	731	c.449C>T	c.(448-450)tCa>tTa	p.S150L	AKAP1_uc002iux.3_Missense_Mutation_p.S150L|AKAP1_uc021uak.1_Missense_Mutation_p.S150L|AKAP1_uc010dcm.3_Missense_Mutation_p.S150L|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	150					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGCCCCCTTTCATCCCCAAAG	0.537000														2			36		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56423937C>T	uc010ygg.2	-	4	1271	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000														28			70		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796863	42796863	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42796863C>T	uc002otf.1	+	13	3361	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1107	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCAGCACCCCTGGCCCAGC	0.677000			"""Mis, F, S"""		oligodendroglioma									42			37		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65147220	65147220	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:65147220T>C	uc010wqk.2	-	17	2488	c.2301A>G	c.(2299-2301)cgA>cgG	p.R767R	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.R766R	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAACCACCACTCGATGTTTAA	0.453000														91			10		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020367	5020367	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5020367G>C	uc010qyu.2	+	0	155	c.155G>C	c.(154-156)tGg>tCg	p.W52S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGTCATTTGGATAGAATCC	0.438000														69			52		0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201827587	201827587	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201827587G>A	uc001gwz.3	+	11	1284	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	412					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGTGGCCACAGATTTCCAGAA	0.443000														168			25		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325281	47325281	+	RNA	SNP	C	T	T	rs10712628		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47325281C>T	uc001cqo.1	-	8		c.1287G>A								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CATTTCAATCCAAACATAGCT	0.398000														15			19		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691178	18691178	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18691178G>A	uc001rdt.3	+	23	3405	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1138K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E916K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGATTTTGTGGAACTTTGCTG	0.383000														50			27		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40043923	40043923	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40043923G>A	uc002hyg.3	-	16	1967	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	ACLY_uc002hyh.3_Missense_Mutation_p.P592S|ACLY_uc002hyi.3_Missense_Mutation_p.P656S|ACLY_uc010wfx.2_Missense_Mutation_p.P646S|ACLY_uc010wfy.2_Missense_Mutation_p.P331S	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	602					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGGGCCTCAGGGATGCCTTCA	0.542000														26			35		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746078	15746078	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15746078G>A	uc002yjt.3	-	4	1345	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	HSPA13_uc011abx.2_Missense_Mutation_p.P218S	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	426						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GATGTGTTGGGATCTTTTCCA	0.493000														44			36		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960473	143960473	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:143960473C>T	uc010mey.3	-	2	512	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.G124R|CYP11B1_uc003yxj.3_Missense_Mutation_p.G124R	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	124					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CATTTGTGCCCACGATGTTGT	0.632000									Familial Hyperaldosteronism type I					24			21		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2428309	2428310	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:2428309_2428310CC>TT	uc001aji.1	+	14	2247_2248	c.1973_1974CC>TT	c.(1972-1974)gcc>gTT	p.A658V	PLCH2_uc010nyz.2_Missense_Mutation_p.A447V|PLCH2_uc009vle.1_Missense_Mutation_p.A447V|PLCH2_uc001ajj.1_Missense_Mutation_p.A447V|PLCH2_uc001ajk.1_Missense_Mutation_p.A447V|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	659	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GAGACCAAGGCCCACCAGATTC	0.658000														51			43		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42174341	42174341	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42174341G>A	uc001zos.3	-	11	2478	c.2145C>T	c.(2143-2145)taC>taT	p.Y715Y		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	750					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)		CGTCCGCGAAGTACTGTGGGA	0.771000														0			4		0	0	1	0	0
PSMD5	5711	broad.mit.edu	37	9	123595596	123595596	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123595596A>C	uc004bko.3	-	1	331	c.312T>G	c.(310-312)ctT>ctG	p.L104L	PSMD5_uc011lye.2_Silent_p.L104L	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	104					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ATACCTGGGAAAGAGTGAGGA	0.498000														47			63		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84627738	84627738	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:84627738A>G	uc003pkf.3	+	5	592	c.460A>G	c.(460-462)Agc>Ggc	p.S154G		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	154					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	p.S154S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GCTTCCCAAGAGCCAAGTGAC	0.294000														33			16		0	0	1	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696936	112696936	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:112696936A>G	uc010qrh.1	-	0	78	c.56T>C	c.(55-57)cTg>cCg	p.L19P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.																		GATGGTCGCCAGGCGGCCCAG	0.542000														21			6		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954600	70954600	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70954600T>G	uc002ezr.3	-	45	7827	c.7676A>C	c.(7675-7677)aAg>aCg	p.K2559T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2560										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				Gtccttctccttcttcccttc	0.622000														10			8		0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038614	14038614	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:14038614G>A	uc004cwb.3	-	3	398	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	GEMIN8_uc004cwc.3_Missense_Mutation_p.P19S|GEMIN8_uc004cwd.3_Missense_Mutation_p.P19S	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	19					spliceosomal snRNP assembly	Cajal body|SMN complex|cytoplasm|spliceosomal complex	protein binding	p.P19P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GCATATACCGGATGAGAATAC	0.443000														2			59		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304798	117304798	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117304798G>A	uc003vjd.3	+	24	4152	c.4020G>A	c.(4018-4020)gtG>gtA	p.V1340V	CFTR_uc011knq.2_Silent_p.V746V	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1340	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGTCCTTGTGGATGGGGGCT	0.473000									Cystic Fibrosis					61			48		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55069588	55069588	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55069588T>A	uc001cxm.2	+	10	1306	c.1130T>A	c.(1129-1131)gTc>gAc	p.V377D	ACOT11_uc001cxj.2_Missense_Mutation_p.V255D|ACOT11_uc001cxl.2_Missense_Mutation_p.V377D	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	377	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCCTCTCCGTCCCCTGGGAC	0.582000														96			17		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796392	69796392	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69796392G>A	uc003hef.2	-	4	1207	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	392						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCAAATATGGGAACTCCCA	0.418000														24			40		0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57575930	57575930	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57575930T>C	uc001nmc.4	+	13	2731	c.2160T>C	c.(2158-2160)acT>acC	p.T720T	CTNND1_uc001nlf.2_Silent_p.T720T|CTNND1_uc021qjk.1_Silent_p.T714T|CTNND1_uc001nlh.1_Silent_p.T720T|CTNND1_uc001nlj.4_Silent_p.T660T|CTNND1_uc001nlq.4_Silent_p.T619T|CTNND1_uc001nlr.4_Silent_p.T660T|CTNND1_uc001nln.4_Silent_p.T714T|CTNND1_uc001nli.4_Silent_p.T714T|CTNND1_uc001nlo.4_Silent_p.T613T|CTNND1_uc001nlp.4_Silent_p.T660T|CTNND1_uc001nlu.4_Silent_p.T613T|CTNND1_uc001nlt.4_Silent_p.T613T|CTNND1_uc001nlv.4_Silent_p.T613T|CTNND1_uc001nls.4_Silent_p.T613T|CTNND1_uc001nlw.4_Silent_p.T613T|CTNND1_uc001nmf.4_Silent_p.T720T|CTNND1_uc001nlx.4_Silent_p.T397T|CTNND1_uc001nlz.4_Silent_p.T397T|CTNND1_uc009ymn.3_Silent_p.T391T|CTNND1_uc001nly.4_Silent_p.T391T|CTNND1_uc001nmb.4_Silent_p.T391T|CTNND1_uc001nma.4_Silent_p.T391T|CTNND1_uc001nmd.4_Silent_p.T666T|CTNND1_uc001nlk.4_Silent_p.T666T|CTNND1_uc001nme.4_Silent_p.T714T|CTNND1_uc001nll.4_Silent_p.T660T|CTNND1_uc001nlm.4_Silent_p.T714T|CTNND1_uc001nmi.4_Silent_p.T619T|CTNND1_uc001nmg.4_Silent_p.T660T|CTNND1_uc001nmh.4_Silent_p.T714T	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	720					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.R719L(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACCTCCTGACTAATGAACATG	0.468000														88			11		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50127735	50127735	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50127735T>A	uc010njr.2	-	15	2479	c.2435A>T	c.(2434-2436)cAg>cTg	p.Q812L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	812					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGGCTTGTCTGGTTAATATC	0.388000														50			36		0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029137	76029137	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76029137A>C	uc003ken.4	+	1	1352	c.1087A>C	c.(1087-1089)Agc>Cgc	p.S363R		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	363					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGCAGCATAAGCTGCTGCAT	0.493000														50			34		0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33317986	33317986	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33317986T>G	uc002hik.2	+	4	1023	c.894T>G	c.(892-894)ggT>ggG	p.G298G	LIG3_uc002hij.3_Silent_p.G298G|LIG3_uc010cth.1_Silent_p.G307G	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	298					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTCCAGATGGTTTCCACGGTG	0.423000								Other BER factors						74			9		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927486	176927486	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176927486C>T	uc001glc.3	-	9	1943	c.1731G>A	c.(1729-1731)gaG>gaA	p.E577E	ASTN1_uc001glb.1_Silent_p.E577E|ASTN1_uc001gld.1_Silent_p.E577E|ASTN1_uc009wwx.1_Silent_p.E577E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	585					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						CTCACCTGACCTCCACAGCAT	0.532000														29			26		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043271	184043271	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184043271A>C	uc003fnp.3	+	19	3236	c.2965A>C	c.(2965-2967)Aat>Cat	p.N989H	EIF4G1_uc010hxx.3_Missense_Mutation_p.N996H|EIF4G1_uc003fnt.3_Missense_Mutation_p.N700H|EIF4G1_uc010hxy.3_Missense_Mutation_p.N996H|EIF4G1_uc003fnq.3_Missense_Mutation_p.N902H|EIF4G1_uc003fnr.3_Missense_Mutation_p.N825H|EIF4G1_uc003fns.3_Missense_Mutation_p.N949H|EIF4G1_uc003fnv.4_Missense_Mutation_p.N990H|EIF4G1_uc003fnw.3_Missense_Mutation_p.N996H|EIF4G1_uc003fnx.3_Missense_Mutation_p.N794H|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	989	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACAGAGCAATTGGGTGCC	0.572000														324			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814460	137814460	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:137814460C>T	uc002tva.1	+	1	517	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.R63C	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATAGAACTCGCGCGGTCAT	0.507000														45			100		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206630267	206630267	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206630267A>T	uc002vaw.3	+	13	3168	c.2377A>T	c.(2377-2379)Act>Tct	p.T793S	NRP2_uc002vau.3_Missense_Mutation_p.T793S|NRP2_uc002vav.3_Missense_Mutation_p.T793S|NRP2_uc002vax.3_Missense_Mutation_p.T793S|NRP2_uc002vay.3_Missense_Mutation_p.T793S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	793	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCGGATAAGCACTGATGTCCC	0.473000														75			44		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908441	2908441	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:2908441A>T	uc003bpc.3	+	7	799	c.460A>T	c.(460-462)Agt>Tgt	p.S154C	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S154C|CNTN4_uc003bpd.1_Missense_Mutation_p.S154C	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCAGAGCTGAGTTATGCCTG	0.353000														49			16		0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127892099	127892099	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127892099T>A	uc003vml.2	+	1	85	c.28T>A	c.(28-30)Ttg>Atg	p.L10M	LEP_uc003vmm.2_Missense_Mutation_p.L10M	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	10					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GTGCGGATTCTTGTGGCTTTG	0.493000														157			5		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913876	23913876	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23913876G>A	uc001uon.2	-	9	4728	c.4139C>T	c.(4138-4140)cCt>cTt	p.P1380L	SACS_uc001uoo.2_Missense_Mutation_p.P1233L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1380					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.N1380N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGATGTATAGGAACTGGTGT	0.353000														21			32		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18778631	18778631	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18778631T>G	uc002njz.1	+	2	451	c.424T>G	c.(424-426)Ttc>Gtc	p.F142V		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	142										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGCGGCCGTGTTCTTGCAGAT	0.657000														73			9		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184076902	184076902	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184076902A>G	uc003foi.3	-	1	205	c.81T>C	c.(79-81)acT>acC	p.T27T	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Silent_p.T27T|CLCN2_uc011brl.2_Silent_p.T27T|CLCN2_uc011brm.2_Silent_p.T27T|CLCN2_uc011brn.1_Silent_p.T27T	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	27						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAAGGTCCTGAGTGTACCGGC	0.617000														148			6		0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87570256	87570256	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:87570256C>T	uc010osk.2	+	6	1333	c.948C>T	c.(946-948)ttC>ttT	p.F316F	HS2ST1_uc001dme.2_Intron	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	316						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AGAATGAGTTCTATGAATTTG	0.388000														33			29		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398262	23398262	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:23398262C>T	uc004dal.4	+	1	914	c.906C>T	c.(904-906)ctC>ctT	p.L302L	PTCHD1_uc010nfu.2_Silent_p.L302L	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	302	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TAGGCCTGCTCGGATTGGTGA	0.542000														2			65		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149225945	149225945	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149225945C>T	uc002twm.4	+	8	1430	c.433C>T	c.(433-435)Cca>Tca	p.P145S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	145						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGCAGCAACTCCAAGATCAGT	0.388000														7			8		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155282	71155282	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:71155282G>A	uc001swi.2	-	3	1010	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PTPRR_uc010stq.2_Missense_Mutation_p.S87F	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	199					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCAAACTGGGATAAACTTTG	0.378000														5			65		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063816	73063816	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73063816C>T	uc004ebm.1	-	0		c.8773G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AACAGTATACCCCACAGTAAT	0.383000														1			14		0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2567013	2567013	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2567013G>A	uc002klh.4	-	1	983	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	68					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGGCTTAGTGGAAGAGTCAGA	0.388000														37			46		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131035	45131035	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45131035G>A	uc002xsa.3	-	3	1474	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	ZNF334_uc002xsb.3_Missense_Mutation_p.H277Y|ZNF334_uc002xsd.3_Missense_Mutation_p.H277Y|ZNF334_uc002xsc.3_Missense_Mutation_p.H315Y|ZNF334_uc010ghl.3_Missense_Mutation_p.H314Y			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCCCTCCATGAATTTTCTGG	0.448000														76			66		0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273795	212273795	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:212273795C>T	uc009xdc.3	+	13	1777	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	DTL_uc010ptb.2_Missense_Mutation_p.S446F|DTL_uc001hiz.4_Missense_Mutation_p.S217F	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	488					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTGTCTCCTCCGTCTCTCCC	0.527000														36			37		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905979	86905979	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:86905979C>T	uc001dlr.4	+	7	1514	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	451	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTGCAGCCCCAAATCTGGAG	0.428000														52			14		0	0	1	0	0
IGFBP3	3486	broad.mit.edu	37	7	45957038	45957038	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:45957038C>T	uc003tnr.3	-	2	554	c.422_splice	c.e2-1	p.G141_splice	IGFBP3_uc003tnq.3_Splice_Site|IGFBP3_uc003tns.3_Splice_Site_p.G135_splice|IGFBP3_uc003tnt.3_Splice_Site_p.G38_splice	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	135	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTAGCATTTCCTTAAAACGC	0.502000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			19		0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22814004	22814004	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:22814004A>G	uc001rft.3	+	3	854	c.832A>G	c.(832-834)Agt>Ggt	p.S278G	ETNK1_uc009ziz.3_Missense_Mutation_p.S278G	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	278					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTTCCTAAGTGATATCCC	0.353000														50			15		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441354	125441354	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:125441354G>A	uc001ugy.3	-	17	2435	c.2336C>T	c.(2335-2337)cCc>cTc	p.P779L		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	779							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGTGCCACGGGGAATGTGGC	0.642000														8			82		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17342402	17342402	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:17342402G>A	uc003zmz.2	+	11	1872	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	CNTLN_uc003zmy.3_Missense_Mutation_p.A616T|CNTLN_uc010mio.3_Missense_Mutation_p.A295T	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	616						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAATGAACTGGCATATTTCAA	0.343000														40			3		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23802527	23802527	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:23802527C>T	uc003sws.4	+	10	1468	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	STK31_uc003swt.4_Silent_p.R444R|STK31_uc011jze.2_Silent_p.R467R|STK31_uc010kuq.3_Silent_p.R444R	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R467C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAATAAACGCTTAAAAACAT	0.284000														28			17		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022175	51022175	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51022175T>C	uc002pss.3	-	2	932	c.795A>G	c.(793-795)gtA>gtG	p.V265V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	265						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGATGGTGGCTACCTGGGCGT	0.647000														95			9		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:30269510C>T	uc022buh.1	+	0	900	c.900C>T	c.(898-900)ttC>ttT	p.F300F	MAGEB1_uc004dcc.3_Silent_p.F300F|MAGEB1_uc004dcd.3_Silent_p.F300F|MAGEB1_uc004dce.3_Silent_p.F300F	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512000														2			50		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132578	21132578	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:21132578C>T	uc002npg.4	+	3	1406	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	ZNF85_uc010ecn.3_Missense_Mutation_p.H355Y|ZNF85_uc010eco.3_Missense_Mutation_p.H368Y|ZNF85_uc002npi.3_Missense_Mutation_p.H361Y	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	420						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGATAATTCATACTGGAGA	0.313000														12			5		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1842994	1842994	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1842994C>T	uc002qxe.3	-	20	3834	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	MYT1L_uc002qxd.3_Missense_Mutation_p.E1001K|MYT1L_uc010ewk.3_5'UTR	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1003					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATGCCTTCCGTCTTGACC	0.672000														44			21		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30744600	30744600	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:30744600G>A	uc002dze.1	+	28	6513	c.6128_splice	c.e28-1	p.G2043_splice	SRCAP_uc002dzf.3_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.G1838_splice	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2043					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TATCTCTTTAGGAAAGTTGCA	0.498000														46			18		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294802	5294802	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5294802A>C	uc010zqw.2	-	0	222	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V	PROKR2_uc010zqx.2_Missense_Mutation_p.F72V|PROKR2_uc010zqy.2_Missense_Mutation_p.F72V|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	72						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATAAAGACAAAGTTACCGATG	0.542000										HNSCC(71;0.22)				71			7		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723880	58723880	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58723880C>T	uc002qrq.1	+	8	1789	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	ZNF274_uc002qrr.1_Missense_Mutation_p.P412S|ZNF274_uc002qrs.1_Missense_Mutation_p.P339S|ZNF274_uc010eum.1_Missense_Mutation_p.P204S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	445					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCACAAAATTCCTCCTAGAAA	0.418000														58			96		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145977	70145977	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:70145977G>A	uc004dyn.3	-	10	1846	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F	SLC7A3_uc004dyo.3_Missense_Mutation_p.L558F	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	558					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCATCATAAGGTAAATATTC	0.458000														0			13		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30992487	30992487	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:30992487G>A	uc010qdx.1	+	5	929	c.387G>A	c.(385-387)ggG>ggA	p.G129G						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CGATATTTGGGAGACTTACTG	0.483000														164			91		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468070	6468070	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6468070G>A	uc002mfe.3	-	22	1943	c.1851C>T	c.(1849-1851)ccC>ccT	p.P617P	DENND1C_uc002mfb.3_Silent_p.P167P|DENND1C_uc002mfc.3_Silent_p.P167P|DENND1C_uc002mfd.3_Silent_p.P167P|DENND1C_uc010xje.2_Silent_p.P573P	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	617						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCAGGGAAAGGGGCTGGGGCT	0.537000														16			18		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132265	15132265	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15132265G>A	uc002nae.2	+	3	1074	c.975G>A	c.(973-975)caG>caA	p.Q325Q		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	325					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGGAGCAACAGCTGCAGATAA	0.612000														27			19		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127724863	127724863	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:127724863T>G	uc001ljk.2	-	20	2803	c.2390A>C	c.(2389-2391)aAt>aCt	p.N797T	ADAM12_uc010qul.1_Missense_Mutation_p.N748T	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	797					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATGTCAACATTCTGACACTG	0.507000														54			9		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70595619	70595619	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70595619A>C	uc002ezf.3	+	16	2431	c.2220A>C	c.(2218-2220)gaA>gaC	p.E740D		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	740					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGACACTGGAATTTGCATCGG	0.517000														51			21		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149841	34149841	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:34149841C>T	uc004ddg.3	-	0	607	c.555G>A	c.(553-555)ggG>ggA	p.G185G		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	185	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCAGAATTCCCCACAGGGAT	0.597000														1			42		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910027	39910027	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:39910027G>A	uc001zki.3	-	10	1826	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	536								p.S536F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CATCTAAGAAGGAGGGCCTTT	0.403000														2			44		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90896108	90896108	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:90896108C>T	uc003ula.3	+	0	2326	c.1913C>T	c.(1912-1914)aCc>aTc	p.T638I		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	638					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACGAGGCTCACCAACAGCAAA	0.612000														45			43		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848461	92848461	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92848461C>T	uc011khy.2	-	2	475	c.452G>A	c.(451-453)gGa>gAa	p.G151E	HEPACAM2_uc003uml.3_Missense_Mutation_p.G116E|HEPACAM2_uc010lff.3_Missense_Mutation_p.G116E|HEPACAM2_uc003umm.3_Missense_Mutation_p.G128E	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	128	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGTTCCATTTCCCTGAATGTT	0.478000														28			23		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134504019	134504019	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134504019G>A	uc022bos.1	-	7	1096	c.937C>T	c.(937-939)Ccg>Tcg	p.P313S	RAPGEF1_uc022bot.1_Missense_Mutation_p.P295S|RAPGEF1_uc010mzm.3_5'Flank|RAPGEF1_uc022bou.1_Missense_Mutation_p.P300S|RAPGEF1_uc022bov.1_Missense_Mutation_p.P300S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	295					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	p.P313P(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTAGGGGACGGCGCCGACTGT	0.582000														39			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103270610	103270610	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103270610C>T	uc022ajr.1	-	19	2639	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	RELN_uc022ajq.1_Missense_Mutation_p.E827K|RELN_uc010liz.3_Missense_Mutation_p.E827K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	827					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)		CCTGGTAGTTCTACGGAGATT	0.343000														38			21		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44152191	44152191	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44152191T>G	uc002zbm.3	+	5	517	c.454T>G	c.(454-456)Tta>Gta	p.L152V	PDE9A_uc002zbn.3_Missense_Mutation_p.L25V|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_5'UTR|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Missense_Mutation_p.L92V|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Missense_Mutation_p.L44V|PDE9A_uc002zca.3_Missense_Mutation_p.L111V|PDE9A_uc002zcb.3_Missense_Mutation_p.L126V|PDE9A_uc002zcc.3_Missense_Mutation_p.L51V|PDE9A_uc002zcd.3_Missense_Mutation_p.L66V|PDE9A_uc002zce.3_Missense_Mutation_p.L85V|PDE9A_uc002zcf.3_Intron|PDE9A_uc002zcg.3_5'UTR	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	152					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	p.L152F(1)|p.E151*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GAGAGAAGAATTAATCCAGAG	0.488000														27			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100350	168100350	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168100350T>A	uc002udx.3	+	8	2537	c.2448T>A	c.(2446-2448)ccT>ccA	p.P816P	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.P641P|XIRP2_uc010fpq.3_Silent_p.P594P|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	641					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACCCAACCTTTGGAGAAAA	0.378000														30			41		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270114	36270114	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36270114C>T	uc010jwf.2	+	5	1252	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	PNPLA1_uc010jwe.1_Nonsense_Mutation_p.Q332*|PNPLA1_uc003olw.1_Nonsense_Mutation_p.Q323*	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	418	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCTACACTCTCAGGCACCCAC	0.602000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			55		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468694	56468694	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:56468694G>A	uc021wzo.1	-	0	482	c.342C>T	c.(340-342)gtC>gtT	p.V114V	ERC2_uc003dhr.1_Silent_p.V114V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	114						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTATGAAAGGACATCTGTGT	0.522000														45			69		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684010	100684010	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100684010A>G	uc003uxp.1	+	2	9366	c.9313A>G	c.(9313-9315)Act>Gct	p.T3105A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3105	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAAGGAAGCACTCCATTAAC	0.502000														391			68		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281117	49281117	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:49281117G>A	uc010acw.1	+	1	454	c.164G>A	c.(163-165)gGa>gAa	p.G55E	CYSLTR2_uc010acx.1_Missense_Mutation_p.G55E|CYSLTR2_uc010acy.1_Missense_Mutation_p.G55E|CYSLTR2_uc010acz.1_Missense_Mutation_p.G55E|CYSLTR2_uc010ada.1_Missense_Mutation_p.G55E|CYSLTR2_uc010adb.1_Missense_Mutation_p.G55E|CYSLTR2_uc010adc.1_Missense_Mutation_p.G55E|CYSLTR2_uc010add.1_Missense_Mutation_p.G55E|CYSLTR2_uc001vck.2_Missense_Mutation_p.G55E|CYSLTR2_uc021rjl.1_Missense_Mutation_p.G55E	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	55					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGAGTCTTGGGAAATGGGTTG	0.378000														43			24		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40870515	40870515	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40870515T>C	uc010wgu.2	-	7	942	c.906A>G	c.(904-906)acA>acG	p.T302T	EZH1_uc002iaz.3_Silent_p.T296T|EZH1_uc002iba.3_Silent_p.T287T|EZH1_uc010wgt.2_Silent_p.T226T|EZH1_uc010wgv.2_Silent_p.T256T|EZH1_uc010wgw.2_Silent_p.T157T|EZH1_uc010cyp.2_Silent_p.T197T|EZH1_uc010cyq.2_Silent_p.T213T|EZH1_uc010cys.2_Silent_p.T247T|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Intron	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	296					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GGCAAAAAAGTGTGTGGAAGG	0.542000														34			6		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77244476	77244476	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77244476C>T	uc003hkb.4	-	22	3397	c.3244G>A	c.(3244-3246)Gat>Aat	p.D1082N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1082								p.D1082G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGCTGTAAATCTTCTACCAGA	0.403000														39			64		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20618045	20618045	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20618045G>A	uc002wrz.3	-	7	910	c.767C>T	c.(766-768)tCa>tTa	p.S256L	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	256					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTTAGTAAATGATGGAAATAA	0.353000														5			4		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496387	24496387	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:24496387G>A	uc002kwd.3	-	4	1397	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.L390L|CHST9_uc021uij.1_Silent_p.L305L	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	390					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GGAAATTTCAGCTCCTTTGGA	0.398000														71			46		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637012	23637012	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23637012T>C	uc001bgr.4	-	10	1996	c.1837A>G	c.(1837-1839)Aac>Gac	p.N613D	HNRNPR_uc001bgo.3_Missense_Mutation_p.N223D|HNRNPR_uc010odw.2_Missense_Mutation_p.N575D|HNRNPR_uc009vql.3_Missense_Mutation_p.N474D|HNRNPR_uc001bgp.4_Missense_Mutation_p.N616D|HNRNPR_uc001bgs.4_Missense_Mutation_p.N512D|HNRNPR_uc009vqk.3_Missense_Mutation_p.N515D|HNRNPR_uc010odx.2_Missense_Mutation_p.N453D	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	613	Asn/Gln-rich.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAACCATAGTTACCAGAATAG	0.463000														194			32		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101092478	101092478	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101092478G>A	uc003yjb.1	-	3	418	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Nonsense_Mutation_p.Q75*|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	75					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGAGGTTGCTGGTTTTGTAGA	0.353000														36			12		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542460	77542460	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:77542460C>T	uc011bgk.2	+	4	1376	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ROBO2_uc021xat.1_Missense_Mutation_p.R261C|ROBO2_uc003dpy.4_Missense_Mutation_p.R245C|ROBO2_uc003dpz.3_Missense_Mutation_p.R245C|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	245	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R245C(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTAGAATTTCGTTGTCAAGT	0.418000														98			17		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699953	49699953	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49699953T>C	uc003cxe.4	+	5	10789	c.10675T>C	c.(10675-10677)Tac>Cac	p.Y3559H		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3559					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)		TGAGGAGGGCTACATCCTGGA	0.587000														66			6		0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348442	103348442	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:103348442T>G	uc004bba.3	+	1	894	c.804T>G	c.(802-804)gcT>gcG	p.A268A		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	268					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAAAGGAAGCTTTTAAGATGC	0.527000														71			33		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49419970	49419970	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49419970G>A	uc001rta.4	-	47	15779	c.15779C>T	c.(15778-15780)cCc>cTc	p.P5260L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5260	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCACCCTGGGGAGAGGCGTC	0.507000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				157			41		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47345289	47345289	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47345289A>C	uc001ner.1	+	30	4636	c.4445A>C	c.(4444-4446)aAg>aCg	p.K1482T	MADD_uc001neq.2_Missense_Mutation_p.K1423T|MADD_uc001nev.1_Missense_Mutation_p.K1380T|MADD_uc001nes.1_Missense_Mutation_p.K1400T|MADD_uc001net.1_Missense_Mutation_p.K1443T|MADD_uc009yln.1_Missense_Mutation_p.K1376T|MADD_uc001neu.1_Missense_Mutation_p.K1380T|MADD_uc001nez.2_Missense_Mutation_p.K1379T|MADD_uc001new.2_Missense_Mutation_p.K1422T|MADD_uc001nex.2_Missense_Mutation_p.K1482T|MADD_uc009ylo.3_Missense_Mutation_p.K396T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1482					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGTACGAGAAGCTCATCAAC	0.498000														70			15		0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146731507	146731507	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:146731507C>T	uc001epm.4	+	5	574	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CHD1L_uc001epn.4_Missense_Mutation_p.L58F|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.L171F|CHD1L_uc010ozp.2_5'UTR|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	171	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTGGAGTGTTCTTGTTGTGGA	0.373000														129			95		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803245	7803245	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7803245T>C	uc002gjd.2	+	15	2755	c.2753T>C	c.(2752-2754)cTg>cCg	p.L918P	CHD3_uc002gje.2_Missense_Mutation_p.L859P|CHD3_uc002gjf.2_Missense_Mutation_p.L859P	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	859	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATGTTCTCCTGACATCGTAT	0.522000														93			4		0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156450706	156450706	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156450706A>G	uc001fpc.3	-	3	706	c.316T>C	c.(316-318)Tcg>Ccg	p.S106P	MEF2D_uc001fpb.3_Missense_Mutation_p.S106P|MEF2D_uc001fpd.3_Missense_Mutation_p.S106P|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.S106P	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	106					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTTCCAGCGAGTCCTCCCCG	0.657000											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		202			4		0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24573103	24573103	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24573103T>G	uc001wlt.3	+	9	1985	c.1853T>G	c.(1852-1854)gTc>gGc	p.V618G	NRL_uc001wlq.3_Intron|PCK2_uc010tnw.2_Missense_Mutation_p.V484G|PCK2_uc010tnx.2_Missense_Mutation_p.V484G|PCK2_uc001wlu.4_Missense_Mutation_p.V452G	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	618					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ACAGAGCAGGTCAACCAGGAT	0.552000														49			17		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767710	143767710	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:143767710G>A	uc001ejt.3	-	0	172	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	47	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.R47C(2)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCCTTATAACGAAATCCTTTC	0.483000														236			8		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757110	71757110	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:71757110C>T	uc003kce.1	-	1	400	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTGCTCCTTCGAAGACCCCG	0.572000														50			34		0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751650	76751650	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76751650A>G	uc021qnq.1	+	0	1055	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G	B3GNT6_uc021qnp.1_Missense_Mutation_p.E352G			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	351					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						ATGTACCGCGAGTTGCTGCTA	0.697000														9			3		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175431	117175431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117175431C>T	uc003vjd.3	+	5	841	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	237	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCCTTTTTCAGGCTGGGCT	0.433000									Cystic Fibrosis					51			41		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013093	107013093	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107013093C>T	uc021ser.1	-	218		c.8783G>A								Parts of antibodies, mostly variable regions.																		CTAATGAAACCTACCCACTCC	0.512000														64			47		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45533653	45533653	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45533653C>T	uc002zeb.3	+	2	241	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	51						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGACACGCTGCCCCTGGCCAC	0.587000														34			33		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65306022	65306022	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65306022C>T	uc001oea.1	+	17	2489	c.2412C>T	c.(2410-2412)gcC>gcT	p.A804A	SCYL1_uc001oeb.1_Silent_p.A787A|SCYL1_uc001oec.1_3'UTR|SCYL1_uc001oee.1_3'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	804	Interaction with COPB1 (By similarity).				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AGCTGGGAGCCCGGAAGCTGG	0.672000														18			14		0	0	1	0	0
OSTM1	28962	broad.mit.edu	37	6	108370531	108370531	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:108370531A>C	uc003psd.3	-	4	961	c.875T>G	c.(874-876)aTt>aGt	p.I292S		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	Homo sapiens osteopetrosis associated transmembrane protein 1 (OSTM1), mRNA.	292						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TAGAAAGAGAATGAACACAGA	0.378000														39			4		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842960	7842960	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7842960C>T	uc001qte.3	-	1	645	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	203					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.E203K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGACCAGTATCTCCAGGAATA	0.498000														34			30		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122932	36122932	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36122932G>A	uc003aof.3	+	2	817	c.817G>A	c.(817-819)Gct>Act	p.A273T		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	273					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTCTGGACGGCTAGAGGGGT	0.522000														97			118		0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94248117	94248117	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:94248117T>C	uc011kid.1	-	5	834	c.723A>G	c.(721-723)ctA>ctG	p.L241L	SGCE_uc003unm.2_Silent_p.L205L|SGCE_uc003unl.2_Silent_p.L205L|SGCE_uc003unn.2_Silent_p.L205L|SGCE_uc011kic.1_Silent_p.L164L	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	205	Cys-rich.				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCCCTGTCTAGGGCCGATG	0.468000														54			6		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30699538	30699538	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30699538G>A	uc003xil.3	-	0	6996	c.6996C>T	c.(6994-6996)tcC>tcT	p.S2332S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2332										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTACAACTGGAAACAGTAG	0.323000														30			19		0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475338	74475338	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74475338T>C	uc002jrq.2	-	4	675	c.381A>G	c.(379-381)ggA>ggG	p.G127G	RHBDF2_uc021udh.1_Silent_p.G98G|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Silent_p.G98G|RHBDF2_uc002jrs.1_Silent_p.G98G	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	127					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CGCCGCTGACTCCAAACCACT	0.672000														14			4		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435579	220435580	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220435579_220435580CC>TT	uc010fwk.3	-	0	689_690	c.375_376GG>AA	c.(373-378)gagggc>gaAAgc	p.G126S	OBSL1_uc010fwl.2_Missense_Mutation_p.G126S|OBSL1_uc002vmi.3_Missense_Mutation_p.G126S|INHA_uc002vmk.2_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	126					cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACCGGGGCGCCCTCCCCGGACC	0.792000														2			5		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15640606	15640606	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15640606C>T	uc002nbh.4	+	3	476	c.309C>T	c.(307-309)gtC>gtT	p.V103V		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	103						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGGGACCTGTCCTGCCGCTGT	0.527000														62			47		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15303220	15303220	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15303220C>T	uc002nan.3	-	2	384	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	NOTCH3_uc002nao.1_Missense_Mutation_p.R103Q	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	103	EGF-like 2.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCATGAGAATCGGGCGGTGCC	0.657000														17			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659966	179659966	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179659966C>T	uc021vsy.1	-	6	1153	c.928G>A	c.(928-930)Gca>Aca	p.A310T	TTN_uc021vsz.1_Missense_Mutation_p.A310T|TTN_uc021vta.1_Missense_Mutation_p.A310T|TTN_uc021vtb.1_Missense_Mutation_p.A310T|TTN_uc002unb.2_Missense_Mutation_p.A310T|TTN_uc010frg.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	310	ZIS1.						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)			ATTCTTGCTGCTGGAGACACG	0.512000														23			24		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327208	16327208	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:16327208G>A	uc003nbt.3	-	7	2305	c.1334C>T	c.(1333-1335)cCg>cTg	p.P445L	ATXN1_uc010jpi.3_Missense_Mutation_p.P445L|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	445					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAGTCCCACCGGGAGTGGCTC	0.627000														147			79		0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32804215	32804215	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32804215G>A	uc003amm.2	-	2	318	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	63					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCTGGCAGGAAGCCACCA	0.373000														14			12		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74205829	74205829	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74205829G>A	uc010tud.1	-	0	1130	c.883C>T	c.(883-885)Cca>Tca	p.P295S	C14orf43_uc001xot.3_Missense_Mutation_p.P295S|C14orf43_uc001xou.3_Missense_Mutation_p.P295S|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	295	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TGTCCCAGTGGCCCAGCTGGC	0.622000														14			14		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219605282	219605282	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219605282A>G	uc002viy.3	+	4	2006	c.1636A>G	c.(1636-1638)Agc>Ggc	p.S546G	TTLL4_uc010zkl.1_Missense_Mutation_p.S381G|TTLL4_uc010fvx.3_Missense_Mutation_p.S546G	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	546					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.P545F(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGTCTCCCCCAGCGAATCGGT	0.438000														67			27		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99941718	99941718	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:99941718G>A	uc004egd.4	-	13	1601	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	SYTL4_uc010nnb.3_Silent_p.I87I|SYTL4_uc010nnc.3_Silent_p.I415I|SYTL4_uc004ege.4_Silent_p.I415I|SYTL4_uc004egf.4_Silent_p.I415I|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	415	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCCCGCTTGATGCTGGTTT	0.443000														0			18		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201966582	201966582	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201966582T>G	uc001gxd.3	+	4	1019	c.990T>G	c.(988-990)agT>agG	p.S330R	RNPEP_uc001gxe.3_Missense_Mutation_p.S31R	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	330					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCACAGTTGGTTTGGGA	0.542000														67			27		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30365320	30365320	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30365320T>G	uc002wwp.1	+	8	1459	c.761T>G	c.(760-762)gTc>gGc	p.V254G	TPX2_uc010gdv.1_Missense_Mutation_p.V254G	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	254					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GTGAGCCAGGTCACCAAATCA	0.418000														67			4		0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7137194	7137194	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:7137194T>G	uc002qys.3	+	3	577	c.135_splice	c.e3+2	p.L45_splice		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	45						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGTACTCTGGTTGGTCTTTTT	0.458000														45			13		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156641255	156641255	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156641255G>A	uc003lwo.1	+	3	461	c.379G>A	c.(379-381)Gat>Aat	p.D127N		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	127					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCTGGATGGATGGGAAGTG	0.448000			T	SYK	peripheral T-cell lymphoma									28			27		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702761	40702761	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:40702761G>A	uc010mmj.3	+	3	447	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	140	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCCTCTCATGAGCCTATGGA	0.597000														208			33		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753838	49753838	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:49753838G>A	uc003ozu.3	-	0	1216	c.1063C>T	c.(1063-1065)Ctc>Ttc	p.L355F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	355					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCATCCATGAGGGCTTTGGTT	0.463000														91			82		0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6978873	6978873	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6978873A>C	uc001qrk.3	+	4	626	c.590A>C	c.(589-591)aAg>aCg	p.K197T	TPI1_uc010sfo.2_Missense_Mutation_p.K78T	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	160					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GACTGGAGCAAGGTCGTCCTG	0.582000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			26		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182872015	182872015	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182872015G>A	uc003flh.4	-	1	438	c.214C>T	c.(214-216)Cat>Tat	p.H72Y		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	72					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AAGGTGATATGACCATCCATG	0.463000														68			151		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14923709	14923709	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:14923709T>A	uc004fst.1	+	29	5324	c.4379T>A	c.(4378-4380)cTc>cAc	p.L1460H	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	1460					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTGCTAATCTCATTAAAGTA	0.438000														9			12		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911441	150911441	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150911441T>G	uc003lue.4	-	12	9531	c.9518A>C	c.(9517-9519)aAg>aCg	p.K3173T	FAT2_uc003lud.4_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3173	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAGCGGCTTTTCCAGGCG	0.652000														51			21		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105622934	105622934	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:105622934A>C	uc010swu.1	-	1	340	c.122T>G	c.(121-123)cTc>cGc	p.L41R	APPL2_uc010swt.2_5'UTR|APPL2_uc001tlf.1_Missense_Mutation_p.L41R|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_5'UTR	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	41	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATTGCCTGGAGCAGCTGGTT	0.517000														10			7		0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31499077	31499077	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31499077C>T	uc003ntt.3	-	7	1631	c.973G>A	c.(973-975)Gag>Aag	p.E325K	DDX39B_uc003ntr.3_Missense_Mutation_p.E132K|DDX39B_uc003ntu.3_Missense_Mutation_p.E325K|DDX39B_uc011dnn.2_Missense_Mutation_p.E247K|DDX39B_uc003ntv.3_Missense_Mutation_p.E325K	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	325	Helicase C-terminal.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCTCACCTCTCCTCCTGGGGC	0.483000														26			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209068	140209068	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140209068G>A	uc003lho.2	+	0	1419	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.V464V|PCDHAC2_uc011dab.2_Silent_p.V464V	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	478	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTTCGTGAAGGAGAACA	0.652000														41			35		0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038280	14038280	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:14038280A>C	uc004cwb.3	-	3	732	c.389T>G	c.(388-390)gTa>gGa	p.V130G	GEMIN8_uc004cwc.3_Missense_Mutation_p.V130G|GEMIN8_uc004cwd.3_Missense_Mutation_p.V130G	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	130					spliceosomal snRNP assembly	Cajal body|SMN complex|cytoplasm|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTCACATTCTACCTCTGCATC	0.498000														107			48		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36571942	36571942	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:36571942T>G	uc022abu.1	-	16	1716	c.1315A>C	c.(1315-1317)Aat>Cat	p.N439H	AOAH_uc003tfh.4_Missense_Mutation_p.N439H|AOAH_uc011kba.2_Missense_Mutation_p.N407H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	439					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATGTCTTTATTTAGCTGGCCT	0.537000														79			21		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525810	39525810	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39525810C>T	uc002hwl.3	-	0	238	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	65	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity	p.N64N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622000														64			28		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289149	107289149	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107289149G>A	uc011lvn.2	-	0	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCATGCCAAGGAGGAAACATT	0.438000														104			42		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541608	55541608	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55541608C>T	uc010ril.2	+	0	695	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AAGATGCGATCTGCAAGTGGG	0.413000														48			37		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559964	33559964	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:33559964C>T	uc001rll.1	-	2	1134	c.837G>A	c.(835-837)agG>agA	p.R279R	SYT10_uc009zju.1_Silent_p.R89R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	279	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.D278N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTTCTTTTTCCTATCTGGAA	0.358000														12			10		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48537758	48537758	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48537758A>C	uc003gyh.1	-	47	7085	c.6480T>G	c.(6478-6480)tgT>tgG	p.C2160W	FRYL_uc003gyg.1_Missense_Mutation_p.C856W|FRYL_uc003gyi.1_Missense_Mutation_p.C1048W|FRYL_uc003gyj.1_Missense_Mutation_p.C455W	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2160					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCAGTTAGAACAGTCTCTGG	0.383000														17			9		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224019	42224019	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42224019A>G	uc002orl.3	+	6	1784	c.1663A>G	c.(1663-1665)Acc>Gcc	p.T555A	CEACAM5_uc002orj.1_Missense_Mutation_p.T554A	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	555	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGCAACAGGACCCTCACTCT	0.527000														157			31		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462756	56462757	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56462756_56462757GG>AA	uc003pcy.4	-	27	4215_4216	c.4107_4108CC>TT	c.(4105-4110)aacctt>aaTTtt	p.L1370F	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3782					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGTCCAAAAGGTTTTCTATTT	0.455000														32			13		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211736	38211736	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:38211736G>A	uc010abx.3	-	10	2488	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	TRPC4_uc010abv.3_Silent_p.F326F|TRPC4_uc001uwt.3_Silent_p.F746F|TRPC4_uc001uws.3_Silent_p.F746F|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Silent_p.F573F|TRPC4_uc010aby.3_Silent_p.F681F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	746	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.V750D(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTCAAAGCGGAAACTAGAAA	0.363000														13			12		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92484038	92484038	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92484038T>C	uc001xzy.3	-	4	1019	c.645A>G	c.(643-645)caA>caG	p.Q215Q	TRIP11_uc010auf.2_5'Flank	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	215					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAATGATATTTTGTAGTTTAC	0.294000			T	PDGFRB	AML									9			10		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44268344	44268344	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44268344G>A	uc010jza.1	-	21	2901	c.2898C>T	c.(2896-2898)agC>agT	p.S966S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron|TCTE1_uc003oxi.2_5'Flank	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	966					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding	p.S966G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GGTCAGTAGTGCTTCCGGTGC	0.632000														148			43		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941356	13941356	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13941356C>T	uc002mxh.1	+	12	2651	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	ZSWIM4_uc010xng.1_Missense_Mutation_p.A744V	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	821							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGCTCCGGGCCTACAAGCTG	0.697000														66			53		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553441	179553441	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179553441G>A	uc021vsy.1	-	122	28653	c.28428C>T	c.(28426-28428)ttC>ttT	p.F9476F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F6137F|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10403							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)			GAGGAACTGCGAAGGATAGTT	0.373000														29			10		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255222	30255222	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:30255222G>A	uc001msl.3	+	2	334	c.265G>A	c.(265-267)Gat>Aat	p.D89N	FSHB_uc001msm.3_Missense_Mutation_p.D89N|FSHB_uc001msn.3_Missense_Mutation_p.D89N	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	89					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TCACCATGCAGATTCCTTGTA	0.537000														23			23		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60453509	60453509	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:60453509T>C	uc001vht.3	-	20	2680	c.2461A>G	c.(2461-2463)Atg>Gtg	p.M821V	DIAPH3_uc001vhu.3_Missense_Mutation_p.M558V|DIAPH3_uc001vhv.3_Missense_Mutation_p.M399V	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	821	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGACAGCCATGATGTCAGGT	0.443000														39			15		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38092097	38092097	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38092097T>G	uc003xlc.3	+	2	606	c.406T>G	c.(406-408)Tta>Gta	p.L136V	DDHD2_uc003xla.2_Missense_Mutation_p.L136V|DDHD2_uc003xlb.3_Missense_Mutation_p.L136V|DDHD2_uc011lbl.1_5'UTR	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	136					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAGCCAAGTTTTAGAGGTATT	0.353000														80			15		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189118	98189118	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:98189118G>A	uc003dsm.3	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAAAGAGGGAAGGGCCAAA	0.343000														21			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777515	141777515	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141777515C>T	uc002tvj.1	-	11	2918	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	649					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCACAATTCCTCTGGGATG	0.358000										TSP Lung(27;0.18)				29			42		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230822772	230822772	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:230822772A>G	uc001htw.3	+	12	1623	c.1472A>G	c.(1471-1473)aAc>aGc	p.N491S	COG2_uc001htx.3_Missense_Mutation_p.N491S|COG2_uc010pwc.2_Missense_Mutation_p.N364S	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	491					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ACCCAAGGAAACACTGAAGAC	0.473000														49			4		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336455	70336455	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:70336455G>C	uc001oqc.3	-	18	2391	c.2279C>G	c.(2278-2280)cCc>cGc	p.P760R	SHANK2_uc010rqn.2_Missense_Mutation_p.P236R|SHANK2_uc001opz.3_Missense_Mutation_p.P231R|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.P228R|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.P39R	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	447					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.T760T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGAACAGTGGGCGTCATCAC	0.602000														53			36		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366370	15366370	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15366370G>A	uc002nar.3	-	9	2007	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	BRD4_uc002nas.3_Silent_p.P595P|BRD4_uc002nat.3_Silent_p.P595P	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	595					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACGTGGGAGGGGGCTTGCTCT	0.587000			T	C15orf55	lethal midline carcinoma of young people									74			59		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629991	1629991	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1629991C>T	uc002wfm.1	-	1	202	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SIRPG_uc002wfn.1_Missense_Mutation_p.G46E|SIRPG_uc002wfo.1_Missense_Mutation_p.G46E	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	46	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding	p.G46R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCTGTCTTTCCAACTGTGAC	0.512000														38			21		0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30708043	30708043	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30708043A>G	uc003nrm.3	-	7	779	c.615T>C	c.(613-615)agT>agC	p.S205S	FLOT1_uc011dmr.2_Silent_p.S157S	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	205						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTCGATCTCACTCAGGTACT	0.552000														52			17		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012610	29012610	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29012610G>A	uc003nlw.2	-	0	343	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATAACAGCCAGGAGAAGGCAC	0.418000														28			32		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450654	105450654	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105450654T>A	uc022cca.1	+	0	1229	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	MUM1L1_uc004emg.2_Missense_Mutation_p.I410K|MUM1L1_uc004emf.2_Missense_Mutation_p.I410K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	410	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGCAGTGATAAAAAGTATC	0.348000														0			8		0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928453	20928453	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20928453A>C	uc001vxk.2	-	2	512	c.359T>G	c.(358-360)aTc>aGc	p.I120S	TMEM55B_uc001vxl.2_Missense_Mutation_p.I113S	NM_001100814	NP_001094284	Q86T03	TM55B_HUMAN	Homo sapiens transmembrane protein 55B (TMEM55B), transcript variant 1, mRNA.	113						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCATTCTTGATTGGCTAGAG	0.463000														18			16		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655510	38655510	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38655510T>G	uc002ohk.3	+	14	4681	c.4172T>G	c.(4171-4173)cTg>cGg	p.L1391R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1391					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCACGGGACTGGCGGGGGGC	0.652000														32			12		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392248	45392248	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:45392248A>G	uc001zun.3	-	24	3387	c.3184_splice	c.e24+1	p.Y1062_splice	DUOX2_uc010bea.3_Splice_Site_p.Y1062_splice	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1062	Interaction with TXNDC11 (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	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|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)		GAACTCTTACAGTAAGCACGA	0.567000														37			6		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803345	185803345	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185803345C>T	uc002uph.3	+	3	3816	c.3222C>T	c.(3220-3222)ctC>ctT	p.L1074L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1074						intracellular	zinc ion binding	p.A1073V(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCTGCCCTCCCACCCCCTA	0.488000														34			73		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640478	99640478	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:99640478A>C	uc001tge.2	-	12	2338	c.1921T>G	c.(1921-1923)Ttg>Gtg	p.L641V	ANKS1B_uc001tgf.2_Missense_Mutation_p.L221V|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.L607V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	641						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTGTTTGCCAAACTGACTTCA	0.403000														19			9		0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958188	153958188	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:153958188C>T	uc021xgc.1	+	11	2404	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ARHGEF26_uc011bog.1_Missense_Mutation_p.S707F|ARHGEF26_uc011boh.1_Missense_Mutation_p.S707F|ARHGEF26_uc011boi.1_5'UTR	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	707	PH.			S -> T (in Ref. 5; AAH78655).	regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AATGATTATTCCTTAAGAGAT	0.393000														27			5		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448901	104448901	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104448901G>A	uc004bbp.2	-	1	1882	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	GRIN3A_uc004bbq.1_Silent_p.L427L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	427					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCTGAAGTGAGATTTGTAG	0.473000														92			27		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657937	72657937	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:72657937C>T	uc003txs.1	-	12	1975	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gcaggggtttccctctggatg	0.488000														35			35		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174747	3174747	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:3174747C>T	uc021xkv.1	+	30	4200	c.4055C>T	c.(4054-4056)cCa>cTa	p.P1352L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1352					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTGTGAGGCCAGGCTTGTAC	0.597000														6			49		0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750052	6750052	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6750052T>G	uc002mfs.3	+	11	1436	c.1370T>G	c.(1369-1371)cTg>cGg	p.L457R	TRIP10_uc010dux.2_Missense_Mutation_p.L401R|TRIP10_uc002mfr.3_Missense_Mutation_p.L401R|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	457	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ATTGAACGGCTGAAATTGGAA	0.587000														85			16		0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101150158	101150158	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:101150158A>C	uc010qpi.2	+	10	3122	c.2833A>C	c.(2833-2835)Acc>Ccc	p.T945P	CNNM1_uc001kpp.4_Missense_Mutation_p.T924P|CNNM1_uc009xwf.3_Missense_Mutation_p.T874P|CNNM1_uc009xwg.3_Missense_Mutation_p.T324P	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	924					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCTGCTGAGAACCTTGAGTGA	0.488000														5			5		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100477310	100477310	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100477310T>G	uc003huy.3	-	4	801	c.488A>C	c.(487-489)aAc>aCc	p.N163T	RG9MTD2_uc003huz.4_Missense_Mutation_p.N163T|RG9MTD2_uc003hva.4_Missense_Mutation_p.N163T	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	163							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TACCTTCCAGTTGACCCATCC	0.318000														20			7		0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63821675	63821675	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:63821675A>G	uc010ypv.2	+	1	288	c.111A>G	c.(109-111)tcA>tcG	p.S37S	MDH1_uc002scj.2_Silent_p.S19S|MDH1_uc010ypw.2_5'UTR	NM_001199111	NP_001186040	P40925	MDHC_HUMAN	Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA.	19					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TTGCATATTCACTGCTGTACA	0.358000														30			15		0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	772984	772984	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:772984C>T	uc002cjg.3	-	12	1341	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	CCDC78_uc002cjh.3_Silent_p.R172R|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	412										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCATCGTGGCCCGGACCAGCA	0.662000														37			16		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719572	50719572	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50719572G>A	uc003bkv.4	-	22	3802	c.3709C>T	c.(3709-3711)Cag>Tag	p.Q1237*	PLXNB2_uc003bkt.1_Nonsense_Mutation_p.Q29*|PLXNB2_uc003bku.1_Nonsense_Mutation_p.Q222*	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1237					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTCCAGCTGGGACTTGATC	0.672000														35			7		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231875	7231875	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7231875C>T	uc003mxb.3	+	9	4035	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RREB1_uc021yky.1_Silent_p.I1181I|RREB1_uc003mxc.3_Silent_p.I1181I|RREB1_uc010jnx.3_Silent_p.I1181I|RREB1_uc021ykz.1_Silent_p.I1181I|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1181					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTGCCAGCATCGAGAAGATGC	0.642000														46			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179457754C>T	uc021vsy.1	-	248	51613	c.51388G>A	c.(51388-51390)Gat>Aat	p.D17130N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D10825N|TTN_uc021vta.1_Missense_Mutation_p.D10758N|TTN_uc021vtb.1_Missense_Mutation_p.D10633N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18057	Ig-like 102.						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)			CAAGTTAGATCGACTGAATTG	0.393000														56			22		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10797124	10797124	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:10797124A>C	uc001mja.3	+	23	3188	c.3039A>C	c.(3037-3039)atA>atC	p.I1013I		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	1013					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAAGCCATAATTTCATCAA	0.343000														17			7		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209811274	209811274	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209811274T>G	uc001hhg.3	-	3	741	c.351A>C	c.(349-351)caA>caC	p.Q117H	LAMB3_uc009xco.3_Missense_Mutation_p.Q117H|LAMB3_uc001hhh.3_Missense_Mutation_p.Q117H|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.Q117H	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	117	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCATGACTTCTTGAAGCTGGA	0.557000														20			14		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805757	54805757	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:54805757G>A	uc003pck.3	+	4	2104	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	663								p.R662S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAAAGGCGAAGTTTCCCG	0.343000														30			26		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671370	45671370	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45671370G>A	uc021qgn.1	-	0	1104	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	CHST1_uc001mys.2_Silent_p.I368I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	368					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CAAAGGCCACGATGTCGTAGG	0.672000														55			48		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139981611	139981611	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:139981611T>G	uc003ihp.1	-	7	1239	c.988A>C	c.(988-990)Aat>Cat	p.N330H	ELF2_uc003ihm.1_Missense_Mutation_p.N282H|ELF2_uc003ihn.1_Missense_Mutation_p.N270H|ELF2_uc003iho.1_Missense_Mutation_p.N253H|ELF2_uc011chc.1_Missense_Mutation_p.N145H	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	342					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGGGATGAATTTTTTCCACTG	0.453000														61			17		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32738123	32738123	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32738123T>A	uc010ezu.3	+	53	10604	c.10470T>A	c.(10468-10470)tcT>tcA	p.S3490S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGATGCCATCTCCTTCTCATT	0.453000														40			19		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692142	116692142	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116692142T>G	uc001pps.1	-	2	736	c.632A>C	c.(631-633)aAg>aCg	p.K211T		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTGGTCAATCTTGACTTTGAA	0.612000														108			4		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65828153	65828153	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65828153A>G	uc001ogy.1	+	13	1770	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	577					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCCTTCTTCAAGTGGCAGACC	0.517000														84			13		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177069382	177069382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:177069382C>T	uc003iuj.3	+	13	2168	c.1865C>T	c.(1864-1866)cCa>cTa	p.P622L	WDR17_uc003ium.4_Missense_Mutation_p.P598L|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	622										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACTGAGATTCCATATCTGCTC	0.423000														63			25		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704331	68704331	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68704331C>T	uc001ook.1	+	12	2485	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S	IGHMBP2_uc001ool.1_Missense_Mutation_p.P419S|IGHMBP2_uc001oom.1_Missense_Mutation_p.P373S	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	795	Gln/Pro-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCCCTGGGACCCCCAGCAGG	0.706000														16			17		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139911	106139911	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:106139911A>G	uc001kyh.3	+	8	1432	c.1298A>G	c.(1297-1299)aAg>aGg	p.K433R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	433										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAGCAGAGAAAGATCATCTTT	0.493000														41			4		0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955855	63955855	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:63955855C>T	uc001dbb.2	-	3	340	c.200G>A	c.(199-201)aGt>aAt	p.S67N	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.S28N|ITGB3BP_uc009wak.1_Missense_Mutation_p.S50N	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	28					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						AGTTATAACACTTTTCTTCCT	0.303000														17			14		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15274037	15274037	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:15274037A>C	uc001rcs.3	-	1	218	c.78T>G	c.(76-78)ttT>ttG	p.F26L	RERG_uc001rct.3_Missense_Mutation_p.F26L|RERG_uc010shu.2_Intron	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	26					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTGGTCAGAAATCTCACTA	0.368000														15			8		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168838	36168838	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36168838C>T	uc003olv.4	+	1	963	c.739C>T	c.(739-741)Cca>Tca	p.P247S	BRPF3_uc010jwb.3_Missense_Mutation_p.P247S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.P247S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	247					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTATGGCGTCCCATACATCCC	0.542000														54			44		0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796645	11796645	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11796645A>T	uc021upi.1	+	2	1261	c.585A>T	c.(583-585)ggA>ggT	p.G195G	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CTCACACTGGAGAGAAGTCCT	0.398000														25			10		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188699	41188699	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41188699T>G	uc002oon.3	-	4	501	c.333A>C	c.(331-333)cgA>cgC	p.R111R	NUMBL_uc010xvq.2_Silent_p.R70R|NUMBL_uc010xvr.2_Silent_p.R70R|NUMBL_uc002ooo.3_Silent_p.R111R	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	111	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TCACGGACTTTCGGCCCATCT	0.657000														50			3		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171483	207171483	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207171483A>C	uc002vbp.2	+	4	2481	c.2231A>C	c.(2230-2232)gAt>gCt	p.D744A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	744							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAGCTATGATTGCTCCAGC	0.428000														170			10		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474860	140474860	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140474860G>A	uc003lil.3	+	0	624	c.486G>A	c.(484-486)ttG>ttA	p.L162L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	162	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGACTTGGATGTAGGAA	0.378000														12			9		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113885247	113885247	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113885247C>T	uc002tjb.3	+	0	110	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	IL1RN_uc002tix.1_Intron|IL1RN_uc002tiz.3_Intron|IL1RN_uc002tiy.3_Intron|IL1RN_uc002tja.3_Intron	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	16					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CACTCTCCTCCTCTTCCTGTT	0.542000									Lichen Sclerosis et Atrophicus, Familial Clustering of					45			20		0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11586643	11586643	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:11586643T>G	uc002rbh.3	-	6	1098	c.806A>C	c.(805-807)aAt>aCt	p.N269T	E2F6_uc002rbg.3_Missense_Mutation_p.N194T|E2F6_uc002rbi.3_Missense_Mutation_p.N194T|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Missense_Mutation_p.N194T|E2F6_uc002rbf.3_Missense_Mutation_p.N237T	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	269	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TTGCTGAGGATTTTCTTCTGG	0.363000														52			6		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129910625	129910625	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129910625A>G	uc003vpq.3	+	3	400	c.381A>G	c.(379-381)gaA>gaG	p.E127E	CPA2_uc011kpc.1_Silent_p.E127E	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	127					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATACCCTGGAAGAGGTAGGTG	0.423000														58			11		0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840637	1840637	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1840637T>C	uc002ftp.3	-	1	498	c.479A>G	c.(478-480)cAc>cGc	p.H160R		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	160					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GTACTCGATGTGGTTGTCCTG	0.617000														56			9		0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2732843	2732843	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2732843T>G	uc010xgy.1	-	2	1105	c.851A>C	c.(850-852)aAg>aCg	p.K284T	SLC39A3_uc002lwg.3_Missense_Mutation_p.K284T	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	284						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCTCCTTGGCCAGGAT	0.667000														91			20		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77702967	77702967	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77702967G>A	uc001xtf.2	+	9	755	c.543_splice	c.e9-1	p.E181_splice	TMEM63C_uc010asq.1_Splice_Site_p.E181_splice	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	181						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTCCCTGCAGGAGCAAGCTCC	0.592000														28			36		0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28209553	28209553	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:28209553A>C	uc001bpc.4	+	4	1747	c.1719_splice	c.e4+1	p.K573_splice	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Splice_Site_p.K377_splice|C1orf38_uc010ofo.2_Splice_Site_p.K444_splice	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	573					cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCGTCAAGGTACTAGTA	0.542000														37			13		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65905702	65905702	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:65905702A>G	uc002jgf.3	+	9	2878	c.2817A>G	c.(2815-2817)aaA>aaG	p.K939K	BPTF_uc002jge.3_Silent_p.K1065K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1065					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTAGCCAAAAATAATATGG	0.284000														13			3		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219487520	219487520	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219487520C>T	uc021vwx.1	+	5	1030	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	PLCD4_uc002vik.1_Missense_Mutation_p.L78F|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	231	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTTGGATTTCCTCCAAGAGGA	0.468000														61			33		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457109	107457109	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107457109C>T	uc011lvs.2	+	0	407	c.407C>T	c.(406-408)tCc>tTc	p.S136F		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATGGTTGTGTCCCTTGGCTTG	0.478000														57			84		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313566	233313566	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:233313566C>T	uc001hvl.2	-	16	3490	c.3255G>A	c.(3253-3255)aaG>aaA	p.K1085K	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1085						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCATCTTCTTGGGGAGAG	0.448000														2			45		0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75182668	75182668	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75182668C>T	uc001xqh.3	+	3	209	c.158C>T	c.(157-159)tCc>tTc	p.S53F	KIAA0317_uc001xqb.3_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqf.1_Missense_Mutation_p.S38F|FCF1_uc001xqi.3_Non-coding_Transcript	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.	53					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CAACACCCTTCCTGCTTATTT	0.368000														72			50		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850861	22850861	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22850861T>A	uc001bft.2	+	17	3960	c.3449T>A	c.(3448-3450)cTt>cAt	p.L1150H	ZBTB40_uc001bfu.2_Missense_Mutation_p.L1150H|ZBTB40_uc009vqi.1_Missense_Mutation_p.L1038H	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1150					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGGCCCAGCTTGACAGTCAC	0.587000														50			15		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796680	21796680	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21796680A>G	uc001wag.3	+	17	2993	c.2993A>G	c.(2992-2994)cAg>cGg	p.Q998R	RPGRIP1_uc001wah.3_Missense_Mutation_p.Q640R|RPGRIP1_uc001wai.3_Missense_Mutation_p.Q324R|RPGRIP1_uc001wak.3_Missense_Mutation_p.Q473R|RPGRIP1_uc010aim.3_Missense_Mutation_p.Q381R|RPGRIP1_uc001wal.3_Missense_Mutation_p.Q357R|RPGRIP1_uc001wam.3_Missense_Mutation_p.Q315R	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	998	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGGAGCACCAGGTTGTGAGC	0.428000														37			11		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583344	88583344	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88583344G>A	uc003hqv.3	+	5	518	c.414G>A	c.(412-414)gaG>gaA	p.E138E	DMP1_uc003hqw.3_Silent_p.E122E	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	138					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAAGTGATGAGGACTCTGATG	0.522000														29			11		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325737	78325737	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:78325737G>A	uc003kfs.3	-	10	1810	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	DMGDH_uc011cte.1_Missense_Mutation_p.H452Y|DMGDH_uc011ctf.1_Missense_Mutation_p.H401Y|DMGDH_uc011ctg.1_Missense_Mutation_p.H222Y	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	602					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTAAGATCATGAAGTTCTGAT	0.373000														11			4		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27560379	27560379	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27560379A>C	uc002rju.1	-	5	1427	c.1030T>G	c.(1030-1032)Tta>Gta	p.L344V	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Missense_Mutation_p.L333V|GTF3C2_uc002rjw.1_Missense_Mutation_p.L333V|GTF3C2_uc010eyz.2_Missense_Mutation_p.L333V|LOC100505624_uc002rjy.2_Non-coding_Transcript	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	333						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCAGGCTAAAGGAATCCAC	0.483000														55			5		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77249570	77249570	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77249570G>A	uc004aji.3	+	2	199	c.150G>A	c.(148-150)caG>caA	p.Q50Q	RORB_uc004ajh.3_Silent_p.Q39Q	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	50					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGAGCCAGCAGAACAATGCTT	0.438000														11			7		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255103	9255104	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9255103_9255104AC>TT	uc002knv.3	+	8	2102_2103	c.1838_1839AC>TT	c.(1837-1839)cac>cTT	p.H613L	ANKRD12_uc002knw.3_Missense_Mutation_p.H590L|ANKRD12_uc002knx.3_Missense_Mutation_p.H590L|ANKRD12_uc010dkx.1_Missense_Mutation_p.H320L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	613						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAGATTTCCACTTAGAATTTG	0.312000														17			39		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21462765	21462765	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21462765C>T	uc001vyo.3	+	7	958	c.761C>T	c.(760-762)tCa>tTa	p.S254L	METTL17_uc001vym.3_Missense_Mutation_p.S254L|METTL17_uc001vyn.3_Missense_Mutation_p.S254L	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	254					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTACCTGTATCACCCAAGGCA	0.453000														78			15		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805739	50805739	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:50805739C>T	uc003pag.3	+	4	1039	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	291					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TAGAAAAAATCGGTTTGAATT	0.458000														82			28		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134024257	134024257	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:134024257C>T	uc003ytw.3	+	35	6415	c.6374C>T	c.(6373-6375)gCt>gTt	p.A2125V	TG_uc010mdw.3_Missense_Mutation_p.A884V|TG_uc011ljb.2_Missense_Mutation_p.A494V|TG_uc011ljc.2_Missense_Mutation_p.A258V	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2125					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATTTCTCTGCTGTCCGAGAC	0.517000														87			58		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609959	95609959	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95609959G>A	uc004asu.1	-	4	1259	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.N372N|ZNF484_uc004asv.1_Silent_p.N334N|ZNF484_uc010mrb.1_Silent_p.N334N	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTATATTAAGGTTTGAATTCT	0.353000														25			8		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31318021	31318021	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31318021G>A	uc003jhe.2	+	10	2232	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	CDH6_uc003jhd.2_Silent_p.V624V	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	624					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTGCATCGTGATCCTACTAG	0.567000														30			111		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882634	144882634	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:144882634C>T	uc021ouh.1	-	23	3687	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1129K|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.E136K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1129					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTATTCCCTTCCTTGCTACTC	0.463000			T	PDGFRB	MPD									127			41		0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349462	65349462	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:65349462T>C	uc003juk.2	+	20	2626	c.2316T>C	c.(2314-2316)acT>acC	p.T772T	ERBB2IP_uc011cqx.2_Silent_p.T772T|ERBB2IP_uc003jui.2_Silent_p.T772T|ERBB2IP_uc003jul.2_Silent_p.T768T|ERBB2IP_uc011cqy.2_Silent_p.T772T|ERBB2IP_uc003juj.2_Silent_p.T772T|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Silent_p.T768T	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	772					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACTTATAACTAATGATACAT	0.328000														9			7		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155784240	155784240	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155784240T>C	uc001flz.2	-	9	1259	c.1162_splice	c.e9-1	p.S388_splice	GON4L_uc001fly.1_Splice_Site_p.S388_splice|GON4L_uc009wrh.1_Splice_Site_p.S388_splice|GON4L_uc001fma.1_Splice_Site_p.S388_splice|GON4L_uc001fmc.3_Splice_Site_p.S388_splice|GON4L_uc001fmd.4_Splice_Site_p.S388_splice|GON4L_uc009wri.3_Splice_Site|GON4L_uc001fme.3_Splice_Site_p.S216_splice|GON4L_uc001fmf.3_Splice_Site_p.S82_splice	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCAATAAGCTCTACAAAATA	0.398000														82			12		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15132481G>A	uc002nae.2	+	4	1194	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	365					microtubule cytoskeleton organization	microtubule		p.T365T(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592000														39			33		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49051255	49051255	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49051255C>T	uc003cvj.2	+	1	2516	c.2378C>T	c.(2377-2379)tCa>tTa	p.S793L	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.S241L|WDR6_uc010hkn.2_Missense_Mutation_p.S737L|WDR6_uc011bbz.1_Missense_Mutation_p.S712L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	763					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGCTCAGCCCACGCA	0.577000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			37		0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98208121	98208121	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:98208121T>C	uc003knf.3	-	26	3858	c.3710_splice	c.e26+1	p.Q1237_splice	CHD1_uc010jbn.3_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1237					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCACTCACTGCTTTCTTTC	0.323000														13			8		0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45213357	45213358	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45213357_45213358CC>TT	uc001cmg.4	+	3	416_417	c.301_302CC>TT	c.(301-303)cct>TTt	p.P101F	KIF2C_uc010olb.2_Missense_Mutation_p.P101F|KIF2C_uc010olc.2_5'UTR|KIF2C_uc001cmh.4_Missense_Mutation_p.P47F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	101	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.P101S(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTCCAAAATTCCTGCTCCAAAA	0.396000														17			8		0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75675848	75675848	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:75675848C>T	uc003hig.2	-	3	710	c.363G>A	c.(361-363)gtG>gtA	p.V121V		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	121					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCAAACAAATCACCAGAATCT	0.373000														53			76		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306828	54306828	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:54306828C>T	uc021smr.1	+	0	1728	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	UNC13C_uc021sms.1_Silent_p.S576S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S576I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTAATGGAAGCTCTCTCCTGT	0.438000														2			18		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940093	31940093	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31940093G>A	uc003nyv.3	+	1	363	c.235G>A	c.(235-237)Gag>Aag	p.E79K	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.E36K|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.E79K|STK19_uc011dox.1_Missense_Mutation_p.E36K|STK19_uc003nyw.3_Missense_Mutation_p.E79K|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	79						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GACGCCCGGGGAGACCGTACG	0.602000														46			33		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67817706	67817706	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67817706A>G	uc001one.3	+	17	2350	c.2221A>G	c.(2221-2223)Agc>Ggc	p.S741G	TCIRG1_uc001ong.3_Missense_Mutation_p.S525G|TCIRG1_uc009ysd.3_Non-coding_Transcript	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	741					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GTGGGCCCTGAGCCTGGCCCA	0.682000														127			21		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24268122	24268122	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24268122G>A	uc002dmf.3	+	0	1249	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	16					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCACTGTAGGAGCCTTTGCC	0.483000														55			64		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111098	42111098	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42111098A>G	uc001zok.4	+	20	2538	c.2252A>G	c.(2251-2253)cAg>cGg	p.Q751R	MAPKBP1_uc010bci.3_Missense_Mutation_p.Q745R|MAPKBP1_uc010udb.2_Missense_Mutation_p.Q584R|MAPKBP1_uc001zoj.4_Missense_Mutation_p.Q745R|MAPKBP1_uc010bcj.3_Missense_Mutation_p.Q252R|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.Q252R	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	751										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGCCAGCGTCAGCGGGGCGGC	0.597000														13			13		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008039	6008039	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6008039C>T	uc001mcd.2	-	0	177	c.122G>A	c.(121-123)aGc>aAc	p.S41N		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGTGCTGGCTTTCCTCTAA	0.493000														34			13		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796734	71796734	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:71796734T>C	uc002llf.2	-	4	771	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E	FBXO15_uc002lle.2_Missense_Mutation_p.K155E	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	155								p.E230E(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGCCATTTTTTGCCATACCAT	0.368000														4			18		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70498678	70498678	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:70498678C>T	uc003xyg.2	+	5	1060	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	SULF1_uc010lza.1_Missense_Mutation_p.R167C|SULF1_uc003xyd.2_Missense_Mutation_p.R167C|SULF1_uc003xye.2_Missense_Mutation_p.R167C|SULF1_uc003xyf.2_Missense_Mutation_p.R167C	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	167					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAGAATTCTCGCTTCTATAA	0.388000														71			49		0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179052105	179052105	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:179052105T>G	uc003fjr.1	+	6	1798	c.1353T>G	c.(1351-1353)gaT>gaG	p.D451E	ZNF639_uc003fjq.1_Missense_Mutation_p.D451E	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	451	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTCATCTAGATTTCAAGCATT	0.328000														66			5		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287438	202287438	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202287438C>T	uc001gxu.3	+	17	2007	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LGR6_uc001gxv.3_Silent_p.V617V|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.V530V	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	669						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGTGCAGCGTCTCCGTCTCCT	0.701000														3			8		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13752033	13752033	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:13752033A>C	uc002woj.3	-	5	1455	c.1347T>G	c.(1345-1347)atT>atG	p.I449M	ESF1_uc002wok.1_Missense_Mutation_p.I449M	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AATCCTCATAAATTTTACTAG	0.333000														141			5		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332296	123332296	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123332296G>A	uc003pzi.1	+	2	1425	c.556G>A	c.(556-558)Ggc>Agc	p.G186S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	186	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGCTATTGAAGGCCTGCAGGT	0.388000														1			18		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340586	121340586	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121340586A>C	uc003eeg.2	+	2	520	c.310A>C	c.(310-312)Aat>Cat	p.N104H		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	104					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCGCTGGCCAAATGTGGACTC	0.587000														2			91		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924380	70924380	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70924380C>G	uc021rvq.1	+	0	164	c.164C>G	c.(163-165)gCa>gGa	p.A55G	ADAM21_uc001xmd.3_Missense_Mutation_p.A55G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	55					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGCAGAAGTGCAAAGGCTCCT	0.527000														150			27		0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801527	128801527	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128801527C>T	uc003vop.2	+	1	219	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	37						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGGTGATTTCCATGGTGATG	0.557000														101			88		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33470118	33470118	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33470118G>A	uc003zsz.3	-	3	551	c.450C>T	c.(448-450)ggC>ggT	p.G150G	NOL6_uc003zta.3_Silent_p.G150G|NOL6_uc010mjv.3_Silent_p.G150G|NOL6_uc011lob.2_Intron|NOL6_uc003ztb.1_Silent_p.G150G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	150					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCGGAAACAGCCCTTCACGG	0.607000														11			11		0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455244	29455244	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29455244G>A	uc011dlq.2	-	0	436	c.436C>T	c.(436-438)Cct>Tct	p.P146S		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	146						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGGAAATCAGGGATAAAAAAC	0.522000														32			27		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57958276C>T	uc001sor.1	+	4	638	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_uc010srr.1_Missense_Mutation_p.R55C	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R144C(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418000														35			28		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280975	280975	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:280975C>T	uc010qvs.2	+	3	1241	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	NLRP6_uc010qvt.2_Missense_Mutation_p.T414I	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	414	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACGTCCAAGACCACCACGTCA	0.657000														107			101		0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137801825	137801825	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:137801825G>A	uc004cfi.3	-	8	889	c.800C>T	c.(799-801)tCt>tTt	p.S267F		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	267	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACAATTCGAAGAACTCACATC	0.483000														125			40		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861793	22861793	+	Nonsense_Mutation	SNP	C	T	T	rs145962755		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22861793C>T	uc001yuq.2	+	13	1943	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	TUBGCP5_uc001yur.4_Nonsense_Mutation_p.R605*|TUBGCP5_uc010axz.1_Nonsense_Mutation_p.R192*	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	605					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTCCCGTCTTCGACATGGAGA	0.403000														80			29		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346988	72346988	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72346988G>A	uc002jkm.4	+	11	1669	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	KIF19_uc002jkj.2_Missense_Mutation_p.A511T|KIF19_uc002jkk.2_Missense_Mutation_p.A469T|KIF19_uc002jkl.2_Missense_Mutation_p.A469T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	511					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						GGTGGCCGCAGCCCGGGAGAG	0.607000														91			41		0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211810	107211810	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:107211810T>A	uc001vqk.4	-	1	790	c.543A>T	c.(541-543)caA>caT	p.Q181H	ARGLU1_uc010age.1_Missense_Mutation_p.Q14H	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	181	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CAAGCTCAGCTTGTCTCTGTC	0.493000														36			15		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49104392	49104392	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49104392G>A	uc002pjn.2	-	4	1476	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	471										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGTCCTGCCCGGGGGGCCCAG	0.652000														30			26		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908214	48908214	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48908214C>T	uc002pjc.4	+	2	777	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	230						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCGGGCGAGGCCGTGCTCAGT	0.697000														59			61		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597156	136597156	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136597156C>T	uc003qgx.1	-	4	1760	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E501K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E501K|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	503					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGAGCTTTTCAGACTTTACC	0.403000														95			52		0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9535889	9535889	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9535889C>T	uc002kob.3	+	9	2145	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RALBP1_uc002koc.3_Missense_Mutation_p.P641L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	641					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGCAAGGAGCCGGCAAAGCCA	0.632000														14			11		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695474	49695474	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49695474A>G	uc003cxe.4	+	4	8599	c.8485A>G	c.(8485-8487)Acg>Gcg	p.T2829A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2829					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)		GAAGCACTTCACGGCTGACAG	0.637000														83			4		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128035014	128035014	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128035014G>A	uc011kol.1	-	10	1330	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	IMPDH1_uc011kom.1_Silent_p.L403L|IMPDH1_uc003vmt.2_Silent_p.L383L|IMPDH1_uc003vmu.2_Silent_p.L493L|IMPDH1_uc003vmx.2_Silent_p.L416L|IMPDH1_uc003vmy.2_Silent_p.L424L|IMPDH1_uc003vmw.2_Silent_p.L483L|IMPDH1_uc011kon.1_Silent_p.L460L|IMPDH1_uc003vmv.2_Silent_p.L457L	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	408					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGTACTTCTTGAGCCGCACCC	0.617000														54			47		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891406	6891406	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6891406C>T	uc001meu.1	+	0	421	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCAGGCTTTCCTGTAGCTAC	0.542000														73			85		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611795	47611795	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47611795A>G	uc001cqv.1	+	10	1385	c.1334A>G	c.(1333-1335)cAc>cGc	p.H445R	CYP4A22_uc009vyo.3_Missense_Mutation_p.H445R|CYP4A22_uc009vyp.3_Missense_Mutation_p.H347R	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	445						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACACAGCCACGCTTTCCTG	0.517000														444			77		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460056	201460056	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201460056G>A	uc002uvx.3	+	2	266	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	55	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTACAGTGATGATATCACGAT	0.398000														16			3		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907685	103907685	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:103907685C>T	uc001phr.2	+	0	378	c.135C>T	c.(133-135)atC>atT	p.I45I	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	45	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCGAAGAGATCCAGATCATCC	0.562000														55			33		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416641	145416641	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145416641G>A	uc001eni.2	+	3	1311	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	HFE2_uc001enk.2_Missense_Mutation_p.R216Q|HFE2_uc001enj.2_Missense_Mutation_p.R103Q|HFE2_uc001enl.2_Missense_Mutation_p.R103Q|HFE2_uc021oux.1_Missense_Mutation_p.R103Q	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	329					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGACTCTCTCGATCAGAGCGC	0.552000														24			34		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186971000	186971000	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186971000T>G	uc003frh.2	-	5	1238	c.848A>C	c.(847-849)aAc>aCc	p.N283T	MASP1_uc003fri.3_Missense_Mutation_p.N283T|MASP1_uc003frj.3_Missense_Mutation_p.N252T|MASP1_uc003frk.2_Missense_Mutation_p.N283T|MASP1_uc011bse.2_Missense_Mutation_p.N257T	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	283	CUB 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTCTCCCGAGTTGTCACTATG	0.567000														443			17		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50598421	50598421	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:50598421G>A	uc001rwj.4	-	5	952	c.778C>T	c.(778-780)Cca>Tca	p.P260S	LIMA1_uc001rwh.4_Missense_Mutation_p.P100S|LIMA1_uc001rwi.4_Missense_Mutation_p.P100S|LIMA1_uc001rwk.4_Missense_Mutation_p.P260S|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	260					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGAGGCGTGGAAGTTCCAGA	0.413000														5			40		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466780	132466780	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:132466780C>T	uc001ujn.3	+	4	1838	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	EP400_uc021rgq.1_Silent_p.P561P|EP400_uc001ujm.3_Silent_p.P562P|EP400_uc001ujj.2_Silent_p.P525P|EP400_uc001ujk.3_Silent_p.P598P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	598					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGAGGCTGCCCCCAGCCGGTG	0.657000														2			44		0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2838129	2838129	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:2838129T>G	uc003mub.3	-	3	455	c.411A>C	c.(409-411)aaA>aaC	p.K137N	SERPINB1_uc021ykq.1_Non-coding_Transcript	NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	137				K -> R (in Ref. 4; AAP35574).	regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CTGTCTGTCCTTTGACCCACT	0.493000														78			70		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866321	110866321	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110866321G>A	uc003hzy.4	+	4	1282	c.830G>A	c.(829-831)gGa>gAa	p.G277E	EGF_uc011cfu.2_Missense_Mutation_p.G277E|EGF_uc011cfv.2_Missense_Mutation_p.G277E	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	277					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAACACACTGGAAAGGACATG	0.393000														10			16		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950798	12950798	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12950798T>C	uc003bxt.2	-	10	2604	c.2595A>G	c.(2593-2595)caA>caG	p.Q865Q	IQSEC1_uc003bxu.3_Silent_p.Q743Q|IQSEC1_uc011auw.1_Silent_p.Q851Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	865	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTCCATCTCTTGGACTTCCG	0.537000														97			9		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232543	71232543	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71232543C>T	uc003hfg.1	+	2	318	c.237C>T	c.(235-237)tcC>tcT	p.S79S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	79	Poly-Pro.|Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCCACCATCCCCTCCTCCAC	0.552000														73			35		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228480371	228480371	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:228480371T>G	uc009xez.1	+	39	10795	c.10751T>G	c.(10750-10752)cTg>cGg	p.L3584R	OBSCN_uc001hsn.3_Missense_Mutation_p.L3584R|OBSCN_uc001hsq.1_Missense_Mutation_p.L840R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3584	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATACAGCCTGAGGCAGGAC	0.607000														168			13		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366447	248366447	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248366447C>T	uc010pzg.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(2)		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)			CCCACACCTTCCTCTTCTTTC	0.507000														146			113		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2634537	2634537	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2634537T>C	uc003sml.1	+	15	1551	c.1367T>C	c.(1366-1368)cTt>cCt	p.L456P	IQCE_uc010ksm.1_Missense_Mutation_p.L456P|IQCE_uc011jvy.1_Missense_Mutation_p.L440P|IQCE_uc011jvz.1_Missense_Mutation_p.L391P|IQCE_uc003smo.4_Missense_Mutation_p.L456P|IQCE_uc003smk.4_Missense_Mutation_p.L440P|IQCE_uc003smn.4_Missense_Mutation_p.L391P	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	456										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ATTCAGACACTTACCAGCAAG	0.507000														222			10		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100689676	100689676	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100689676A>G	uc004axy.3	-	3	1553	c.1445T>C	c.(1444-1446)gTt>gCt	p.V482A	HEMGN_uc004axz.3_Missense_Mutation_p.V482A	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	482					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAAAACAAAACATAACTATA	0.313000														27			20		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658696	97658696	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:97658696C>T	uc001drv.3	-	19	2688	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	851					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGACTCTGTCCATCCCAGTCT	0.448000														26			28		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38265336	38265336	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38265336A>G	uc003chy.3	+	6	976	c.634A>G	c.(634-636)Agt>Ggt	p.S212G	OXSR1_uc010hhb.3_Missense_Mutation_p.S146G|OXSR1_uc010hha.1_Missense_Mutation_p.S144G	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	212	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATATTTGGAGTTTTGGAAT	0.393000														33			15		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976847	16976847	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16976847G>A	uc010och.2	+	13		c.2568G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		acttcaccaaggactttctta	0.328000														10			3		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100404244	100404244	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100404244T>G	uc001ygr.3	+	20	2312	c.2243T>G	c.(2242-2244)gTt>gGt	p.V748G	EML1_uc010tww.2_Missense_Mutation_p.V717G|EML1_uc001ygs.3_Missense_Mutation_p.V729G	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	729						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGATTCCATGTTTTTGGTAAG	0.428000														66			21		0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452723	58452723	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58452723G>A	uc002qqu.3	-	2	1688	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	ZNF256_uc010euj.3_Missense_Mutation_p.H332Y	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	485					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GCTCCAGTATGAACTTTCCAG	0.453000														71			30		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863832	55863832	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:55863832G>A	uc010spn.2	-	0	91	c.91C>T	c.(91-93)Cta>Tta	p.L31L		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACACAATTTAGAAGTAGAAAT	0.368000														5			32		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26212087	26212087	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:26212087A>T	uc003xeu.3	+	3	613	c.284A>T	c.(283-285)aAg>aTg	p.K95M	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Missense_Mutation_p.K105M	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATAGAAGAAAAGATCAACAAA	0.363000														78			14		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707064	96707064	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:96707064G>A	uc010avm.1	+	2	595	c.399G>A	c.(397-399)gtG>gtA	p.V133V	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.V106V|BDKRB2_uc001yfg.2_Silent_p.V133V	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	133					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GCCGCGTGGTGAATGCCATTA	0.587000														147			127		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514597	51514597	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:51514597G>A	uc001zyz.4	-	5	828	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	CYP19A1_uc001zza.4_Missense_Mutation_p.R193C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R193C|CYP19A1_uc001zzd.3_Missense_Mutation_p.R193C|CYP19A1_uc010bey.1_Missense_Mutation_p.R193C	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	193					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AGCATGACACGACGCAGAAGG	0.488000														17			12		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976170	16976170	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16976170G>A	uc010och.2	+	11		c.2111G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GTGCCTCCAGGGACCAAGTGT	0.587000														301			21		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853560	182853560	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182853560T>G	uc003flh.4	-	4	1286	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	354					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CATCGGTTGTTTTCACCTGCA	0.473000														411			85		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109374986	109374986	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:109374986C>T	uc002tem.4	+	17	2710	c.2584C>T	c.(2584-2586)Cat>Tat	p.H862Y		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	862					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACAGACATTTCATGGGGCTCC	0.438000														135			62		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241964494	241964494	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:241964494T>G	uc001hzg.2	+	26	3430	c.3223T>G	c.(3223-3225)Ttc>Gtc	p.F1075V	WDR64_uc021pli.1_Missense_Mutation_p.F628V	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1075										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGCTTCTTCCTTCTTCCCAGC	0.388000														53			16		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135357735	135357735	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135357735T>G	uc004cbn.3	+	1	282	c.234T>G	c.(232-234)gtT>gtG	p.V78V	C9orf171_uc004cbo.3_Intron	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	78										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTTATTCTGTTTATGACTCCT	0.498000														71			16		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74340365	74340365	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:74340365G>A	uc001ovf.1	+	8	1078	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	POLD3_uc009yua.1_Missense_Mutation_p.E229K	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	335					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGTGAAGATGAAGGTGGGCA	0.373000														35			32		0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243553	180243553	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180243553T>G	uc001goe.2	+	5	1244	c.1012T>G	c.(1012-1014)Ttg>Gtg	p.L338V	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	338						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L338F(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGACAGTAATTTGGGCATCAT	0.577000														294			26		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738526	18738526	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18738526C>T	uc009yht.2	-	9	1185	c.995G>A	c.(994-996)gGa>gAa	p.G332E	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	332								p.G332E(3)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTCATCTCTCCCAGGAACTT	0.537000														40			35		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153391	5153391	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5153391G>A	uc010qyx.2	-	0	482	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGCCCTAAGGAAGGTATTAT	0.458000														41			42		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421241	113421241	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113421241A>C	uc003ynu.3	-	32	5575	c.5416T>G	c.(5416-5418)Ttt>Gtt	p.F1806V	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Missense_Mutation_p.F1766V|CSMD3_uc011lhx.2_Missense_Mutation_p.F1702V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1806	CUB 10.					integral to membrane|plasma membrane		p.V1805V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCTGGAAAAATACAAACTGG	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				105			5		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115350	158115350	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:158115350C>T	uc002tzg.3	+	0	1011	c.756C>T	c.(754-756)gcC>gcT	p.A252A	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	252					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						CTGGGGAAGCCATGGCCTTAA	0.463000														23			24		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29628326	29628326	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29628326G>A	uc003aem.3	+	7	833	c.758G>A	c.(757-759)gGg>gAg	p.G253E	EMID1_uc003aen.3_Missense_Mutation_p.G251E|EMID1_uc021wnr.1_5'Flank	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	251	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGGCCACCAGGGCCTCCTGGC	0.721000														17			24		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746758	51746758	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:51746758A>C	uc010hlv.3	+	2	959	c.720A>C	c.(718-720)aaA>aaC	p.K240N	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	240					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCTCGGAGAAAGTGGGCCGTG	0.642000														32			15		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42467090	42467090	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42467090A>T	uc003gwr.2	-	25	2560	c.2328T>A	c.(2326-2328)gtT>gtA	p.V776V	ATP8A1_uc003gwq.2_Silent_p.V2V|ATP8A1_uc003gws.2_Silent_p.V761V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	776					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAAGAGGAGAAACCCTGAAAT	0.353000														5			14		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639206	6639206	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6639206T>G	uc001ant.3	+	5	2184	c.2088T>G	c.(2086-2088)acT>acG	p.T696T	TAS1R1_uc001anu.3_Silent_p.T442T|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	696					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGTCTAACTTGGCTGGTGG	0.567000														77			16		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866576	106866576	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106866576G>A	uc021ser.1	-	432		c.13644C>T								Parts of antibodies, mostly variable regions.																		CCCTTCCCTGGAGCCTGGCGG	0.567000														214			28		0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7179829	7179829	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:7179829C>T	uc002qys.3	+	8	1259	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	273						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CCTGGCCACTCCCTTTGTACT	0.537000														54			31		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934380	39934380	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39934380T>G	uc021olw.1	+	60	17194	c.17194T>G	c.(17194-17196)Tta>Gta	p.L5732V	MACF1_uc021ols.1_Missense_Mutation_p.L5221V|MACF1_uc021olt.1_Missense_Mutation_p.L5224V|MACF1_uc001cde.2_Missense_Mutation_p.L101V|MACF1_uc001cdg.3_Missense_Mutation_p.L15V|MACF1_uc001cdh.3_Missense_Mutation_p.L15V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7182					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATGAATTTTTAGTGAAAAA	0.483000														58			18		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234527191	234527191	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234527191G>A	uc002vup.3	+	0	901	c.838G>A	c.(838-840)Gga>Aga	p.G280R	UGT1A1_uc010zmv.1_Missense_Mutation_p.G280R	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	283					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTGCCATCAGGGAAAGCCATT	0.403000														75			129		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942373	42942373	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42942373T>C	uc002ihn.2	-	13	1471	c.1210A>G	c.(1210-1212)Acg>Gcg	p.T404A	EFTUD2_uc010wje.1_Missense_Mutation_p.T369A|EFTUD2_uc010wjf.1_Missense_Mutation_p.T394A	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCCTCCTTCGTCAGGTGGATG	0.552000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			23		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978557	247978557	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247978557C>T	uc001idm.1	-	0	475	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGGTGCCAGCTGTGTGCATC	0.473000														55			53		0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492553	198492553	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:198492553C>T	uc009wzd.3	-	3	378	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ATP6V1G3_uc001gup.3_Missense_Mutation_p.E109K|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	109					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ACATGGATTTCTGGTTTCATG	0.398000														3			11		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959630	102959630	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102959630A>T	uc002tbu.1	+	6	1088	c.817A>T	c.(817-819)Aat>Tat	p.N273Y	IL1RL1_uc010ywa.2_Missense_Mutation_p.N156Y|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.N273Y	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	273	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGAAGGGCAAAATCAAAGGTA	0.413000														30			62		0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416260	178416260	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:178416260T>G	uc002uln.3	-	0	1265	c.1232A>C	c.(1231-1233)aAg>aCg	p.K411T	TTC30B_uc010zfc.1_Missense_Mutation_p.K183T	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	411					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ATTCACTGCCTTTTTGATAGC	0.413000														159			12		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16738473	16738474	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:16738473_16738474CC>TT	uc003zml.3	-	1	153_154	c.13_14GG>AA	c.(13-15)ggg>AAg	p.G5K	BNC2_uc011lmw.2_Intron|BNC2_uc003zmm.3_Intron|BNC2_uc003zmq.1_Missense_Mutation_p.G19K|BNC2_uc003zmr.1_Missense_Mutation_p.G5K|BNC2_uc003zmp.1_Missense_Mutation_p.G5K|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_Non-coding_Transcript|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGGGTGGGCCCAAGGTGTGCC	0.421000														19			6		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610527	206610527	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206610527C>T	uc002vaw.3	+	9	2490	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S	NRP2_uc002vau.3_Missense_Mutation_p.P567S|NRP2_uc002vav.3_Missense_Mutation_p.P567S|NRP2_uc002vax.3_Missense_Mutation_p.P567S|NRP2_uc002vay.3_Missense_Mutation_p.P567S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	567	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGACCCCATTCCGGCACAGTA	0.597000														9			26		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80050383	80050383	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:80050383T>C	uc002kdu.3	-	7	1094	c.977A>G	c.(976-978)aAg>aGg	p.K326R		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	326	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CATGTTGGACTTGGTGGAGCC	0.701000														7			6		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421145	105421145	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:105421145T>C	uc003dwc.3	-	11	2074	c.1752A>G	c.(1750-1752)agA>agG	p.R584R	CBLB_uc011bhi.2_Silent_p.R606R|CBLB_uc003dwd.2_Silent_p.R584R|CBLB_uc003dwe.2_Silent_p.R584R	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	584	Pro-rich.		R -> K (in dbSNP:rs17853100).		NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCGGGTCTCTGGAAGGCA	0.542000			Mis S		AML									26			12		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834004	168834004	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:168834004C>T	uc011bpj.1	-	7	2059	c.1656G>A	c.(1654-1656)ggG>ggA	p.G552G	MECOM_uc010hwk.1_Silent_p.G387G|MECOM_uc003ffj.3_Silent_p.G429G|MECOM_uc003ffi.3_Silent_p.G364G|MECOM_uc011bpi.1_Silent_p.G365G|MECOM_uc003ffn.3_Silent_p.G364G|MECOM_uc003ffk.2_Silent_p.G364G|MECOM_uc003ffl.2_Silent_p.G524G|MECOM_uc011bpk.1_Silent_p.G364G|MECOM_uc010hwn.2_Silent_p.G552G	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCTTATTGTCCCCTACAGATG	0.473000														96			32		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39292672	39292672	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39292672T>G	uc002ojg.3	-	8	999	c.785A>C	c.(784-786)aAg>aCg	p.K262T		NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	262	Beta-galactoside binding (By similarity).|Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTGGGTGATCTTCTTCTCCTC	0.567000														96			25		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33512477	33512477	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33512477C>T	uc002nuf.3	-	4	456	c.390_splice	c.e4+1	p.K130_splice	RHPN2_uc010xro.2_Intron|RHPN2_uc002nue.3_Splice_Site	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	130	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGAGATTTACCTTGAGGACGA	0.488000														34			23		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133167421	133167421	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:133167421A>G	uc003epn.1	+	2	799	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	BC007984_uc003epo.3_Intron	NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	221	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTGACTAAAATGGACCTGGA	0.428000														31			4		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449172	91449172	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91449172C>T	uc010bnz.2	+	4	748	c.633C>T	c.(631-633)ttC>ttT	p.F211F	MAN2A2_uc010boa.3_Silent_p.F253F|MAN2A2_uc002bqc.3_Silent_p.F211F|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	211					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGCGCTTCCTCTGGGCAG	0.572000														5			14		0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7831109	7831109	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7831109A>C	uc002gjm.1	-	1	278	c.278T>G	c.(277-279)cTt>cGt	p.L93R	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	93						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				ACCTAGGCCAAGACAGGATAC	0.527000														171			62		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055399	75055399	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75055399C>T	uc001dgg.3	-	11	2311	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E492K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	698	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTATCCTTTTCCTTTTCTTCT	0.458000														119			102		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524441	51524441	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51524441G>A	uc003pah.1	-	60	10759	c.10483C>T	c.(10483-10485)Ctc>Ttc	p.L3495F		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3495					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAGCCAAGAGAAGCTTGGAG	0.448000														54			31		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139157480	139157480	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:139157480G>A	uc021xrw.1	-	2	684	c.404_splice	c.e2+1	p.R135_splice		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	135					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TGCTCTTACCGTATTATGAGG	0.338000														12			16		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118267125	118267125	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:118267125G>A	uc001psw.3	+	19	3306	c.3171G>A	c.(3169-3171)gaG>gaA	p.E1057E	UBE4A_uc001psv.3_Silent_p.E1064E	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	1057					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.E1064D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTTGCAGAGAGGAAACAAC	0.438000														5			47		0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26687576	26687576	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26687576A>G	uc010wah.1	+	3	407	c.400A>G	c.(400-402)Agc>Ggc	p.S134G	POLDIP2_uc002haz.3_5'Flank|POLDIP2_uc010wag.2_5'Flank|TMEM199_uc002hba.3_Missense_Mutation_p.S134G|MIR4723_uc021ttq.1_5'Flank	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	134						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGGGACTCTCAGCGACCTGGG	0.473000														53			5		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36321847	36321847	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36321847C>T	uc002oby.3	-	27	3649	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1165	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCATCTTCACCTGTGAAA	0.562000														47			44		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24183665	24183665	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24183665C>T	uc002dmd.3	+	10	1511	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	PRKCB_uc002dme.3_Silent_p.F438F	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	438	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGGCCGGTTCAAGGAGCCCC	0.502000														15			6		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21338406	21338406	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21338406C>T	uc002kuq.3	+	6	1080	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	LAMA3_uc010dlv.2_Missense_Mutation_p.R332C|LAMA3_uc002kur.3_Missense_Mutation_p.R332C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	332	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACGTGTGATCGCTGCTGCAC	0.597000														24			23		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154030625	154030625	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154030625T>G	uc001fdw.3	-	21	3119	c.3047A>C	c.(3046-3048)aAt>aCt	p.N1016T	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.N1016T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1016						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAAGTATTTATTTTGGAATGG	0.393000														113			9		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43217120	43217120	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43217120C>T	uc002lbe.3	+	5	1632	c.816C>T	c.(814-816)atC>atT	p.I272I	SLC14A2_uc002lbb.3_Silent_p.I272I|SLC14A2_uc010dnj.3_Silent_p.I272I	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	272						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCCCAATATCACCTGGACAG	0.517000														6			38		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9427561	9427561	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9427561G>A	uc010oae.2	+	2	1088	c.749G>A	c.(748-750)gGg>gAg	p.G250E	SPSB1_uc001apv.3_Missense_Mutation_p.G250E	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	250	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCCCTGGGGAGGGAGCGC	0.672000														37			68		0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745522	23745522	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23745522G>A	uc001wja.2	-	1	1063	c.915C>T	c.(913-915)ccC>ccT	p.P305P	HOMEZ_uc001wjb.2_Silent_p.P307P	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	305						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGCTGGAGGGGTTTAGAGG	0.542000														21			17		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888072	25888072	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:25888072C>T	uc001isj.3	+	10	3577	c.3517C>T	c.(3517-3519)Cct>Tct	p.P1173S	GPR158_uc001isk.3_Missense_Mutation_p.P548S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1173						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAGGTTTGTCCTTGGGAGTT	0.453000														23			19		0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46032572	46032572	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:46032572C>T	uc021omx.1	+	5	654	c.236C>T	c.(235-237)tCc>tTc	p.S79F	AKR1A1_uc009vxw.3_Missense_Mutation_p.S79F|AKR1A1_uc021omy.1_Missense_Mutation_p.S79F|AKR1A1_uc001cod.3_Missense_Mutation_p.S79F|AKR1A1_uc001coe.3_Missense_Mutation_p.S79F|AKR1A1_uc001cof.3_5'Flank	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	79					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TTTGTGACATCCAAGCTGTGG	0.612000														26			44		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158167768	158167768	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:158167768G>A	uc002tzg.3	+	9	2986	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	911	Ricin B-type lectin.				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						ATGCTTGGAAGGAAATTTTTC	0.378000														43			14		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188228123	188228123	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:188228123C>T	uc010frt.3	-	7	990	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	CALCRL_uc002upv.4_Missense_Mutation_p.A203T	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	203						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTACTAAGGCCTGGTTGTTG	0.418000														13			28		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209796	139209796	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139209796G>A	uc003yuy.3	-	7	957	c.786C>T	c.(784-786)atC>atT	p.I262I	FAM135B_uc003yux.3_Silent_p.I163I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	262										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCCCGCATGATCACCAGGA	0.622000										HNSCC(54;0.14)				23			29		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155265516	155265516	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155265516C>T	uc001fkb.4	-	2	354	c.315G>A	c.(313-315)aaG>aaA	p.K105K	PKLR_uc001fka.4_Silent_p.K74K|PKLR_uc010pga.1_Silent_p.K41K	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	105					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGATCATCTCCTTGAGGCGCT	0.612000														43			33		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220476726	220476726	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220476726C>T	uc002vml.3	+	18	2461	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	806					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGGCTCTTCCTGGATGTTG	0.657000														3			4		0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232335	35232335	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35232335A>T	uc002nvu.3	+	3	1512	c.1049A>T	c.(1048-1050)gAg>gTg	p.E350V	ZNF181_uc010xsb.1_Missense_Mutation_p.E349V|ZNF181_uc010xsc.1_Missense_Mutation_p.E285V	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAACTCTATGAGTGTCGTATA	0.383000														58			7		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907460	12907460	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12907460G>A	uc010obf.2	-	1	909	c.683C>T	c.(682-684)tCc>tTc	p.S228F	LOC649330_uc009vno.2_Missense_Mutation_p.S228F	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	228							nucleic acid binding|nucleotide binding										TTTCTTCATGGAGCTACTGCT	0.458000														57			95		0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3727815	3727815	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:3727815T>C	uc003mvt.2	-	3	1029	c.548A>G	c.(547-549)cAg>cGg	p.Q183R		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	Homo sapiens PX domain containing 1 (PXDC1), mRNA.	183					cell communication		phosphatidylinositol binding										GCCCAGCTGCTGGTCTCTTCC	0.428000														65			14		0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885741	9885741	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:9885741C>T	uc001qwi.3	-	0	155	c.120G>A	c.(118-120)ggG>ggA	p.G40G	CLECL1_uc001qwj.3_Silent_p.G40G	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	40						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TCCTTCTGCTCCCCAAGTGGG	0.393000														35			34		0	0	1	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23934794	23934794	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:23934794A>G	uc003ccj.3	-	4	773	c.371T>C	c.(370-372)cTt>cCt	p.L124P	NKIRAS1_uc003cck.3_Missense_Mutation_p.L124P	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	124					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTGCTCAGAAAGGTCGATTTT	0.438000														48			16		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86503462	86503462	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:86503462G>A	uc004ana.3	-	7	2169	c.2025C>T	c.(2023-2025)tcC>tcT	p.S675S	KIF27_uc010mpw.3_Silent_p.S675S|KIF27_uc010mpx.3_Silent_p.S675S	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	675					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATTCAACAAGGGAACAAACAG	0.343000														24			11		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457846	98457846	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:98457846G>A	uc003upo.3	-	2	696	c.507C>T	c.(505-507)ttC>ttT	p.F169F	TMEM130_uc011kiq.2_Silent_p.F150F|TMEM130_uc011kir.2_Silent_p.F169F|TMEM130_uc003upn.3_Silent_p.F67F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	169	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGGTCTTGAGGAAGTTGCTCG	0.587000														34			24		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287412	33287412	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33287412G>A	uc003oec.3	-	5	1889	c.1685C>T	c.(1684-1686)cCt>cTt	p.P562L	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.P562L|DAXX_uc021ywo.1_Missense_Mutation_p.P562L|DAXX_uc011dre.2_Missense_Mutation_p.P574L|DAXX_uc003oed.3_Missense_Mutation_p.P562L|DAXX_uc011drd.2_Missense_Mutation_p.P487L	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	562	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGAGACACAGGGCTTTCTTC	0.532000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									47			51		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315611	12315611	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:12315611C>T	uc001mkg.1	+	2	924	c.633C>T	c.(631-633)tcC>tcT	p.S211S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	211					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCGAATTTCCCAGAAAAGTG	0.552000														60			38		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427857	3427857	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3427857C>T	uc010qxs.1	+	8		c.850C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		GGAGCAGAACCCGAATCTTTC	0.592000														28			15		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103927	53103927	+	Missense_Mutation	SNP	G	A	A	rs1689291		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:53103927G>A	uc003tpz.3	+	0	579	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCCAAGGGAAGCGCTAGG	0.716000														48			43		0	0	1	0	0
MEA1	4201	broad.mit.edu	37	6	42979967	42979967	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42979967T>G	uc003otk.3	-	4	866	c.799_splice	c.e4+1		MEA1_uc010jyc.1_Intron|PPP2R5D_uc003oth.3_3'UTR|PPP2R5D_uc010jyd.3_3'UTR|PPP2R5D_uc011dva.2_3'UTR|PPP2R5D_uc003oti.3_3'UTR|PPP2R5D_uc021yzq.1_3'UTR|PPP2R5D_uc003otj.3_3'UTR|KLHDC3_uc003otl.3_5'Flank|KLHDC3_uc003otn.3_5'Flank|KLHDC3_uc003otm.3_5'Flank|KLHDC3_uc021yzr.1_5'Flank	NM_014623	NP_055438	Q16626	MEA1_HUMAN	Homo sapiens male-enhanced antigen 1 (MEA1), mRNA.						cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTGCGGCTTTTGGCTGTGTA	0.552000														5			4		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50667857	50667857	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50667857C>A	uc003bkb.1	-	3	1778	c.1266G>T	c.(1264-1266)ttG>ttT	p.L422F	TUBGCP6_uc010har.1_Missense_Mutation_p.L422F|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	422					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTTGCTGTACAAAGAGTCCA	0.567000														17			18		4.75885e-15	4.78875e-15	1	1	0
FAM40A	85369	broad.mit.edu	37	1	110582056	110582056	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110582056C>T	uc001dza.1	+	4	519	c.500C>T	c.(499-501)tCc>tTc	p.S167F	FAM40A_uc001dyz.1_Missense_Mutation_p.S72F|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	167						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GAGGTGCAGTCCTGGATGCGC	0.557000														18			6		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30525216	30525216	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30525216A>T	uc010gdx.1	+	12	1275	c.1022A>T	c.(1021-1023)aAt>aTt	p.N341I	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.N243I|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	341	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGAGGTCAATGCGTCCCCA	0.572000														38			32		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112174777	112174777	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:112174777C>T	uc009zvx.3	+	12	1976	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	ACAD10_uc001tsp.3_Silent_p.I561I|ACAD10_uc001tsq.3_Silent_p.I561I|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	561							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGCTGCAATCCTACAGGGAG	0.532000														5			57		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151520191	151520191	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:151520191G>A	uc010ipj.3	-	37	6258	c.6014C>T	c.(6013-6015)cCt>cTt	p.P2005L	LRBA_uc003ilt.4_Missense_Mutation_p.P664L|LRBA_uc003ilu.4_Missense_Mutation_p.P2005L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2005						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTCGCTTCAGGATGTGTCGA	0.498000														32			33		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664558	50664558	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50664558G>A	uc003bkb.1	-	8	2266	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	TUBGCP6_uc010har.1_Missense_Mutation_p.P585L|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	585					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGAAACACGGGAACACAGTC	0.552000														147			124		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20551981	20551981	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20551981T>C	uc002dhj.4	-	13	1834	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	ACSM2B_uc002dhk.4_Missense_Mutation_p.R542G	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	542	Coenzyme A binding (By similarity).				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.P541Q(1)|p.P541R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTACCTTTCTTGGGTACTTG	0.468000														50			17		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17827233	17827233	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:17827233C>T	uc022asj.1	+	20	3699	c.3677C>T	c.(3676-3678)tCc>tTc	p.S1226F	PCM1_uc003wyi.4_Missense_Mutation_p.S1187F|PCM1_uc011kyh.2_Missense_Mutation_p.S1187F|PCM1_uc003wyj.4_Missense_Mutation_p.S1188F|PCM1_uc011kyi.2_Missense_Mutation_p.S49F|PCM1_uc011kyj.2_5'Flank|PCM1_uc003wyk.4_5'Flank	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1187					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAAAGCAGTTCCTCTATTGGA	0.353000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									58			25		0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278621	50278621	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50278621T>G	uc003bix.2	+	1	1781	c.1311T>G	c.(1309-1311)agT>agG	p.S437R	ZBED4_uc021wrx.1_Missense_Mutation_p.S437R	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	437						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGGCTGAGTCCTAGATTGT	0.552000														97			18		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101666881	101666881	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:101666881G>A	uc010fiv.3	-	4	940	c.809C>T	c.(808-810)cCg>cTg	p.P270L	TBC1D8_uc010yvw.2_Missense_Mutation_p.P285L|TBC1D8_uc002tau.4_Missense_Mutation_p.P27L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	270					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GATCTGGCTCGGCTCCTGCAG	0.557000														6			22		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7083621	7083621	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7083621G>A	uc001mfb.1	+	9	3185	c.2862G>A	c.(2860-2862)ttG>ttA	p.L954L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	954			L -> S.		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGTTATTTTGAATAACCCAA	0.408000														42			49		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190962	17190962	+	Silent	SNP	G	A	A	rs150557718		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17190962G>A	uc001mmq.4	-	0	392	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Silent_p.F109F|PIK3C2A_uc009ygv.1_Silent_p.F109F	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	109	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTTTAGTCTCGAAACTGTCAT	0.403000														78			59		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738694	43738694	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:43738694T>G	uc001zrs.3	-	13	3064	c.2916A>C	c.(2914-2916)aaA>aaC	p.K972N	TP53BP1_uc010udp.2_Missense_Mutation_p.K972N|TP53BP1_uc001zrq.4_Missense_Mutation_p.K977N|TP53BP1_uc001zrr.4_Missense_Mutation_p.K977N|TP53BP1_uc010udq.1_Missense_Mutation_p.K977N	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	972					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGAATCCCCTTTTCCACTCC	0.463000								Other conserved DNA damage response genes						41			26		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539145	41539145	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41539145C>T	uc002yyq.1	-	16	3470	c.3018_splice	c.e16+1	p.K1006_splice	DSCAM_uc002yyr.1_Splice_Site	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1006	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGTTTACCTTCCATGTGA	0.488000														37			25		0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105876214	105876214	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105876214T>C	uc004emi.4	+	4	1292	c.1141T>C	c.(1141-1143)Tta>Cta	p.L381L	CXorf57_uc004emj.4_Silent_p.L381L|CXorf57_uc004emh.2_Silent_p.L381L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	381										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATTGGCCTTTTAGTTTTTGT	0.289000														25			30		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173229	51173229	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:51173229C>T	uc021tif.1	-	1	2935	c.2613G>A	c.(2611-2613)ggG>ggA	p.G871G	SALL1_uc021tid.1_Silent_p.G871G|SALL1_uc021tie.1_Silent_p.G968G|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	968					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin 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)			AATCCAAAGCCCCACCATTCA	0.483000														0			19		0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23114258	23114258	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:23114258G>A	uc001yvf.2	-	1		c.173C>T								Homo sapiens uncharacterized LOC283683 (LOC283683), non-coding RNA.																		GATTCAGAGGGCATCTTTTCT	0.443000														18			19		0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11022906C>T	uc002mpz.3	+	4	731	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(4)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000														337			5		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446267	102446267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102446267C>T	uc001yks.2	+	3	894	c.730C>T	c.(730-732)Cag>Tag	p.Q244*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	244	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATTTCTTAATCAGTTACAATC	0.358000														59			44		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419920	48419920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:48419920G>A	uc003csr.3	+	5	705	c.519G>A	c.(517-519)tgG>tgA	p.W173*	FBXW12_uc010hjv.3_Nonsense_Mutation_p.W154*|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Nonsense_Mutation_p.W72*|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	173										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAAAGTGTGGAACTGTCAGG	0.498000														22			10		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50894660	50894660	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50894660T>G	uc003blh.3	-	30	4446	c.4251A>C	c.(4249-4251)tcA>tcC	p.S1417S	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Silent_p.S1055S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1391	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCCACTCTGAGTCCTCCA	0.632000														27			7		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48247704	48247704	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48247704G>A	uc002iqi.3	+	6	984	c.948G>A	c.(946-948)cgG>cgA	p.R316R	SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Intron|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	316					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCTGCCGGCGGGAGGGAAGGT	0.622000														43			18		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346123	92346123	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:92346123A>C	uc010tif.2	+	2	1374	c.1008A>C	c.(1006-1008)aaA>aaC	p.K336N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	336						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGGACAAAAATTATTGGAAC	0.393000														36			13		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530708	140530708	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140530708C>T	uc003lir.3	+	0	870	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAACCCTTCGAAATAAACG	0.458000														31			23		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831056	7831056	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7831056A>C	uc010dvt.3	+	3	865	c.747A>C	c.(745-747)caA>caC	p.Q249H	CLEC4M_uc010xjv.1_Missense_Mutation_p.Q221H|CLEC4M_uc002mhy.2_Missense_Mutation_p.Q193H|CLEC4M_uc002mih.3_Missense_Mutation_p.Q226H|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Missense_Mutation_p.Q225H|CLEC4M_uc010xjx.2_Missense_Mutation_p.Q198H|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Missense_Mutation_p.Q221H|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	249	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						AGCAGCAGCAAATCTATCAAG	0.512000														80			19		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187442764	187442765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:187442764_187442765GG>AA	uc003frp.3	-	8	2398_2399	c.1941_1942CC>TT	c.(1939-1944)agccac>agTTac	p.H648Y	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.H592Y|BCL6_uc010hza.2_Missense_Mutation_p.H546Y|BCL6_uc003frq.2_Missense_Mutation_p.H648Y	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	648					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATTCGCAGGTGGCTCTTCAGAG	0.579000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									105			20		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24597496	24597496	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:24597496A>C	uc004dbi.3	-	5	878	c.645T>G	c.(643-645)gtT>gtG	p.V215V	PCYT1B_uc004dbk.4_Silent_p.V215V|PCYT1B_uc004dbj.3_Silent_p.V197V	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	215	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GTCGGGCATAAACATCATAGT	0.453000														59			30		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801546	109801546	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109801546C>T	uc001dxa.4	+	1	3864	c.3803C>T	c.(3802-3804)cCc>cTc	p.P1268L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1268	EGF-like 1; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCATCCACCCCGTCGGAGGG	0.706000														15			16		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77638818	77638818	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:77638818T>C	uc021rks.1	-	72	12871	c.12604A>G	c.(12604-12606)Acc>Gcc	p.T4202A	MYCBP2_uc010aev.3_Missense_Mutation_p.T3568A|MYCBP2_uc001vke.3_Missense_Mutation_p.T781A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATGATGGTTTCTGCAATA	0.373000														34			11		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131255047	131255047	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131255047A>C	uc004bvc.3	+	15	1993	c.1907A>C	c.(1906-1908)aAg>aCg	p.K636T	ODF2_uc011maz.2_Missense_Mutation_p.K572T|ODF2_uc011mbc.2_Missense_Mutation_p.K491T|ODF2_uc022boj.1_Splice_Site_p.K597_splice|ODF2_uc004bva.3_Missense_Mutation_p.K616T|ODF2_uc004bvb.3_Missense_Mutation_p.K548T|ODF2_uc011mbd.2_Missense_Mutation_p.K572T|ODF2_uc011mbe.2_Missense_Mutation_p.K567T|ODF2_uc011mbf.2_Missense_Mutation_p.K553T|ODF2_uc004bvd.4_Missense_Mutation_p.K572T|ODF2_uc004bve.3_Missense_Mutation_p.K553T	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	572					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGAGAACAAGATCCTTAAA	0.443000														19			17		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74867171	74867171	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74867171G>A	uc002smy.3	-	1	349	c.232C>T	c.(232-234)Cct>Tct	p.P78S	C2orf65_uc010ysa.2_Missense_Mutation_p.P78S|C2orf65_uc002smz.2_Missense_Mutation_p.P78S	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	78					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						ACCACAAAAGGGAGGATGCAC	0.403000														21			30		0	0	1	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106552190	106552190	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:106552190T>A	uc003hxv.2	+	3	790	c.644T>A	c.(643-645)aTc>aAc	p.I215N	ARHGEF38_uc003hxu.3_Missense_Mutation_p.I215N	NM_001242729	NP_001229658	Q9NXL2	ARH38_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 38 (ARHGEF38), transcript variant 1, mRNA.	215	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AGCCACTGTATCCAGTCCTTA	0.388000														66			11		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18730123	18730123	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:18730123A>G	uc003wza.3	-	2	354	c.251T>C	c.(250-252)cTg>cCg	p.L84P		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	84					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCATGGCAGAGCCTCACC	0.522000														40			15		0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70392685	70392685	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:70392685T>G	uc002sgh.3	-	6	1555	c.1227A>C	c.(1225-1227)aaA>aaC	p.K409N		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	409										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GGAGCCGTTTTTTTGCACTTC	0.413000														50			6		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606370	139606370	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139606370G>T	uc003yvd.3	-	62	4952	c.4505C>A	c.(4504-4506)cCa>cAa	p.P1502Q	COL22A1_uc011ljo.2_Missense_Mutation_p.P782Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1502	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGGGCCCTGGGGGCCCAGG	0.637000										HNSCC(7;0.00092)				68			15		5.01169e-05	5.01812e-05	1	1	0
TMIGD2	126259	broad.mit.edu	37	19	4294604	4294604	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4294604G>A	uc002lzx.2	-	3	568	c.522C>T	c.(520-522)ggC>ggT	p.G174G	TMIGD2_uc021umz.1_Missense_Mutation_p.A58V|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Silent_p.G174G	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	174						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCGGCGGCCCCAGAACC	0.622000														297			193		0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164015	85164015	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85164015G>A	uc002bkr.3	+	2	815	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	ZSCAN2_uc010bmz.1_Missense_Mutation_p.G195R|ZSCAN2_uc010bna.3_Missense_Mutation_p.G47R|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	197					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H196P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TGAGGACCACGGGGAGGTGGT	0.592000														41			49		0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284580	43284580	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:43284580C>T	uc001mxe.1	-	1		c.356G>A								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		CTCAATAATTCCTCCTGCCAG	0.428000														10			6		0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983848	142983848	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142983848C>T	uc003wcl.3	+	4	831	c.577C>T	c.(577-579)Cct>Tct	p.P193S	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|CASP2_uc003wcq.3_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.P193S|TMEM139_uc010lov.3_Missense_Mutation_p.P193S|TMEM139_uc003wck.4_Missense_Mutation_p.P193S|TMEM139_uc003wcn.3_Missense_Mutation_p.P50S|TMEM139_uc022aod.1_Missense_Mutation_p.P50S|TMEM139_uc003wcm.3_Missense_Mutation_p.P193S	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	193						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					GACTCCACCCCCTGCCTATGA	0.532000														65			48		0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282899	75282899	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:75282899A>C	uc001owr.3	+	4	1326	c.1028A>C	c.(1027-1029)aAg>aCg	p.K343T	SERPINH1_uc009yug.3_Missense_Mutation_p.K343T|SERPINH1_uc001ows.3_Missense_Mutation_p.K343T|SERPINH1_uc001owt.3_Missense_Mutation_p.K126T	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	343					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ATGTCAGGCAAGAAGGACCTG	0.592000														38			9		0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30412976	30412976	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30412976A>C	uc002ymy.3	+	9	1200	c.998A>C	c.(997-999)aAg>aCg	p.K333T	USP16_uc002ymx.3_Missense_Mutation_p.K332T|USP16_uc002ymw.3_Missense_Mutation_p.K333T|USP16_uc011acm.2_Missense_Mutation_p.K318T|USP16_uc011acn.2_Intron|USP16_uc011aco.2_Missense_Mutation_p.K23T	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	333					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TCTACTGAAAAGTTGGATGAA	0.259000														19			4		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3240139	3240139	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3240139T>G	uc002wii.2	-	32	3093	c.3042A>C	c.(3040-3042)aaA>aaC	p.K1014N	C20orf194_uc002wij.3_Missense_Mutation_p.K753N|C20orf194_uc002wik.2_Missense_Mutation_p.K688N	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	1014										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAAACTTCACTTTGCCCAGGA	0.532000														57			11		0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937287	91937287	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91937287A>C	uc001xzn.3	-	9	2376	c.1554T>G	c.(1552-1554)ttT>ttG	p.F518L	SMEK1_uc001xzm.3_Missense_Mutation_p.F505L|SMEK1_uc001xzo.3_Missense_Mutation_p.F505L|SMEK1_uc010atz.3_Missense_Mutation_p.F279L|SMEK1_uc001xzp.1_Non-coding_Transcript	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	518						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCTCCACACAAAATGTTAACA	0.348000														49			8		0	0	1	0	0
IL9	3578	broad.mit.edu	37	5	135229739	135229739	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135229739T>C	uc003lbb.1	-	3	296	c.285A>G	c.(283-285)tcA>tcG	p.S95S		NM_000590	NP_000581	P15248	IL9_HUMAN	Homo sapiens interleukin 9 (IL9), mRNA.	95					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTACTTCAACTGATTTTTTCA	0.408000														3			7		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342678	40342678	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:40342678G>A	uc002rrx.3	-	9	2661	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F874F|SLC8A1_uc002rsb.2_Silent_p.F871F|SLC8A1_uc002rrz.3_Silent_p.F866F|SLC8A1_uc002rsa.3_Silent_p.F843F|SLC8A1_uc002rsd.4_Silent_p.F843F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	879					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGATTCCCAGGAAGACATTCA	0.572000														41			11		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49698146	49698146	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:49698146C>T	uc003jom.3	-	6	1134	c.885G>A	c.(883-885)ggG>ggA	p.G295G	EMB_uc010ivq.3_Silent_p.G89G|EMB_uc003jol.3_Silent_p.G226G|EMB_uc011cpy.2_Silent_p.G245G	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	295						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CAAATTCTTTCCCCTCATCTG	0.308000														17			12		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310241	56310241	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56310241G>A	uc010rjl.2	-	0	493	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAGAAGGTCAGGCGGAAGGTC	0.488000														24			19		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18888074	18888074	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18888074C>T	uc010ebv.3	+	14	1923	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	CRTC1_uc002nkb.4_Missense_Mutation_p.P596L|CRTC1_uc010ebw.3_Missense_Mutation_p.P432L	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	596					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCCAGTTTCCCCTGGACGAA	0.637000														232			193		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657455	1657455	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1657455T>C	uc002ftk.1	+	9	1180	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	SERPINF2_uc010vqr.1_Missense_Mutation_p.I304T|SERPINF2_uc021tnm.1_Missense_Mutation_p.I368T	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	368					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTGCGTGGGATCTCCGAGCAG	0.682000														104			13		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488244	157488244	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157488244G>A	uc009wsm.3	-	14	2935	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L	FCRL5_uc001fqu.3_Silent_p.I929I	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	receptor activity	p.E926V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCTCTTGGATGATCCGTACTT	0.428000														54			56		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762957	138762957	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:138762957T>G	uc011bmt.1	-	0	778	c.506A>C	c.(505-507)gAc>gCc	p.D169A		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	169										breast(2)|lung(7)|skin(2)	11						GGCTGCGGAGTCCATCCAGAG	0.667000														21			15		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314133	54314133	+	Silent	SNP	C	T	T	rs148038630		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54314133C>T	uc002qcj.4	-	2	1000	c.780G>A	c.(778-780)acG>acA	p.T260T	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.T260T|NLRP12_uc002qci.4_Silent_p.T260T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.T260T	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	260	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCTGCATTCCGTGGCACTCT	0.562000														47			25		0	0	1	0	0
CCNG1	900	broad.mit.edu	37	5	162866326	162866326	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:162866326G>A	uc003lzb.3	+	1	298	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	CCNG1_uc011dek.1_Intron|CCNG1_uc011del.2_Intron|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	22					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TGCCCTGTTGGAACAGGAGTC	0.433000														29			19		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27070297	27070297	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:27070297A>C	uc001rhk.4	-	9	1594	c.1057T>G	c.(1057-1059)Ttt>Gtt	p.F353V	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.F252V	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	353					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTTAGAAGAAAATTAGTAAGG	0.249000														29			8		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618406	156618406	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156618406A>C	uc001fpp.3	+	5	1152	c.816A>C	c.(814-816)gaA>gaC	p.E272D	BCAN_uc001fpo.3_Missense_Mutation_p.E272D	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	272	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATTGGAGGAAGCACGGGCGT	0.617000														96			18		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947229	237947229	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237947229G>A	uc001hyl.1	+	89	12337	c.12217G>A	c.(12217-12219)Gat>Aat	p.D4073N	RYR2_uc010pya.2_Missense_Mutation_p.D488N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4073					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)			TGCGGAGACGGATGAGAATGA	0.507000														19			10		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99922364	99922364	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:99922364C>G	uc004egb.3	+	8	1535	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	352					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTCCTGATCCTTCCAACCGA	0.448000														5			27		0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851814	179851814	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179851814C>T	uc001gnq.3	+	0	395	c.177C>T	c.(175-177)ttC>ttT	p.F59F	TOR1AIP1_uc001gnp.1_Silent_p.F59F	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	59						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AAGTGAGGTTCTCGGACGAGC	0.662000														19			25		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46846053	46846053	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46846053C>T	uc003oyo.3	-	9	1415	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.E376K|GPR116_uc010jzi.1_Missense_Mutation_p.E48K|GPR116_uc003oyr.2_Missense_Mutation_p.E376K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	376	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCATTTCTTCATTTGCCAAA	0.358000														17			21		0	0	1	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31782976	31782976	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:31782976A>C	uc001bsp.1	+	1	167	c.31A>C	c.(31-33)Aac>Cac	p.N11H	ZCCHC17_uc001bsq.1_5'UTR|ZCCHC17_uc010ogf.1_Intron|ZCCHC17_uc009vtu.1_Intron|ZCCHC17_uc001bsr.1_Missense_Mutation_p.N11H|ZCCHC17_uc009vtv.1_Intron	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	11						nucleolus	RNA binding|zinc ion binding	p.E10D(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GACCATGGAAAACTTGCCTGC	0.373000														121			34		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628131	128628131	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:128628131A>G	uc010sbu.2	+	1	483	c.140A>G	c.(139-141)aAg>aGg	p.K47R	FLI1_uc010sbt.2_5'UTR|FLI1_uc010sbv.2_Missense_Mutation_p.K14R|FLI1_uc009zci.3_5'UTR|FLI1_uc001qen.3_Missense_Mutation_p.K14R	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	47					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAGCCCCACAAGATCAACCCC	0.597000			T	EWSR1	Ewing sarcoma									10			6		0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72538327	72538327	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72538327C>T	uc001otd.3	+	13	1501	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	ATG16L2_uc001ote.3_Silent_p.F381F|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	487					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			AGATCCGGTTCTGGGACAGCA	0.577000														29			23		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308188	154308188	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154308188C>T	uc003lvx.3	-	5	896	c.813G>A	c.(811-813)aaG>aaA	p.K271K	GEMIN5_uc011ddk.1_Silent_p.K270K	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	271					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCTCTTCTCTTCAGAAAGG	0.473000														26			25		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891616	148891616	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:148891616G>A	uc009wkv.1	+	8		c.918G>A								Homo sapiens cDNA, FLJ17483.																		ACAGTTCCAAGAAGAAAACTG	0.413000														82			9		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896630	205896630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205896630C>T	uc001hdp.3	-	9	1319	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	SLC26A9_uc001hdo.3_Missense_Mutation_p.G70E|SLC26A9_uc001hdq.3_Missense_Mutation_p.G402E	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	402						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGGGATTTTCCTCCAGCTCC	0.527000														25			15		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142942	31142942	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31142942G>A	uc003tca.2	+	13	1427	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E408K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E407K|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.E359K|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E408K|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.E138K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	380					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGCAAAAGGGAAAGACTCGT	0.587000														61			54		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791794	220791794	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220791794A>C	uc009xdw.3	+	7	1292	c.695A>C	c.(694-696)aAg>aCg	p.K232T	MARK1_uc001hmn.4_Missense_Mutation_p.K232T|MARK1_uc010pun.2_Missense_Mutation_p.K232T|MARK1_uc001hmm.4_Missense_Mutation_p.K210T	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	232	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAAGGAAAGAAGTATGATGGG	0.448000														47			9		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026643	36026643	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36026643C>T	uc001bza.3	+	3	1018	c.891C>T	c.(889-891)atC>atT	p.I297I	NCDN_uc001bzb.3_Silent_p.I297I|NCDN_uc001bzc.3_Silent_p.I280I	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	297					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCGACTGGATCCCGGCGGGCA	0.682000														24			15		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674284	4674284	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4674284C>T	uc021qcq.1	+	0	528	c.528C>T	c.(526-528)atC>atT	p.I176I	OR51E1_uc001lzi.4_Silent_p.I176I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I175T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCAATATCCTTTCCCATT	0.542000														101			100		0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021238	24021238	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:24021238A>C	uc001bhk.3	+	3	398	c.353A>C	c.(352-354)aAa>aCa	p.K118T	RPL11_uc001bhl.3_Missense_Mutation_p.K117T	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	118				K -> E (in Ref. 1; CAA55816).	endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGGGTATCAAATATGACCCA	0.423000														131			38		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758164	5758164	+	Missense_Mutation	SNP	C	T	T	rs150132590	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5758164C>T	uc001mbt.2	+	0	487	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.R140C|OR56B1_uc009yev.1_Missense_Mutation_p.R140C	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCACCCTCTTCGCTATCCATC	0.443000														36			33		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131256878	131256878	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131256878A>C	uc004bvc.3	+	16	2120	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ODF2_uc011maz.2_Missense_Mutation_p.Q614H|ODF2_uc011mbc.2_Missense_Mutation_p.Q533H|ODF2_uc022boj.1_Missense_Mutation_p.Q610H|ODF2_uc004bva.3_Missense_Mutation_p.Q658H|ODF2_uc004bvb.3_Missense_Mutation_p.Q590H|ODF2_uc011mbd.2_Missense_Mutation_p.Q614H|ODF2_uc011mbe.2_Missense_Mutation_p.Q609H|ODF2_uc011mbf.2_Missense_Mutation_p.Q595H|ODF2_uc004bvd.4_Missense_Mutation_p.Q614H|ODF2_uc004bve.3_Missense_Mutation_p.Q595H|ODF2_uc004bvh.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	614					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTGAGTGCCAAGACCAACTGC	0.582000														32			7		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41235230	41235230	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41235230T>C	uc002oot.3	+	2	1412	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	460						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.M459I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TATGGCATGGTGCTGCAGGAT	0.582000														28			7		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600151	141600151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141600151G>A	uc010ioj.3	-	4	1068	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	266						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGCAGGGATCGATCTTGTTCA	0.423000														45			72		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701465	13701465	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13701465G>A	uc003jfd.2	-	76	13461	c.13419C>T	c.(13417-13419)ttC>ttT	p.F4473F	DNAH5_uc003jfc.2_Silent_p.F641F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4473					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCGGCCATTGAAAACCCACG	0.438000									Kartagener syndrome					147			33		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176637326	176637326	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176637326T>A	uc003mfr.4	+	4	2064	c.1926T>A	c.(1924-1926)tcT>tcA	p.S642S	NSD1_uc003mft.4_Silent_p.S373S|NSD1_uc003mfs.1_Silent_p.S539S|NSD1_uc011dfx.2_Silent_p.S290S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	642					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTACCACTTCTGATGATGGAA	0.448000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				36			9		0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943099	6943099	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6943099G>A	uc010rav.2	+	0	867	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGATAAAATGATATCTGTGT	0.423000														46			33		0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167745585	167745585	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167745585T>G	uc011bpe.1	-	11	1901	c.1557A>C	c.(1555-1557)ggA>ggC	p.G519G	GOLIM4_uc003ffe.2_Silent_p.G518G|GOLIM4_uc011bpf.1_Silent_p.G491G|GOLIM4_uc011bpg.1_Silent_p.G490G	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	518	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCTGGATCTCCTTCTGCTT	0.458000														286			8		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157127	145157127	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:145157127A>C	uc002tvu.3	-	7	2149	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	ZEB2_uc010zbm.2_Missense_Mutation_p.L519V|ZEB2_uc002tvv.3_Missense_Mutation_p.L537V|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L572V	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	543						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGTAGTCAAGCTCTGGAGG	0.398000														43			18		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568423	142568423	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142568423C>T	uc011kst.2	+	18	3729	c.2942C>T	c.(2941-2943)gCt>gTt	p.A981V	EPHB6_uc011ksu.2_Missense_Mutation_p.A981V|EPHB6_uc003wbs.3_Missense_Mutation_p.A689V|EPHB6_uc003wbt.3_Missense_Mutation_p.A455V|EPHB6_uc003wbu.3_Missense_Mutation_p.A689V|EPHB6_uc003wbv.3_Missense_Mutation_p.A365V	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	981	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGTGATGTGGCTCAGCTCAGC	0.602000														76			80		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75296004	75296004	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75296004C>T	uc001xqj.4	+	18	6376	c.6252C>T	c.(6250-6252)ccC>ccT	p.P2084P	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCAGCTCCCCGATGATTATG	0.473000														48			44		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808500	93808500	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:93808500A>T	uc001pep.2	+	8	1822	c.1665A>T	c.(1663-1665)gtA>gtT	p.V555V	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	555	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGCCTGGTAGGGCCTTTGC	0.517000														3			29		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100221434	100221434	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:100221434T>G	uc001pga.3	+	24	3535	c.3031_splice	c.e24-1	p.V1011_splice	CNTN5_uc021qpb.1_Splice_Site_p.V1011_splice|CNTN5_uc021qpc.1_Splice_Site_p.V937_splice|CNTN5_uc010ruk.2_Splice_Site_p.V282_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1011	Fibronectin type-III 4.				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)		TACTCTCAGGTTTTTTATAGG	0.383000														9			7		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67102350	67102350	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67102350A>C	uc002jhw.1	-	18	2567	c.2392T>G	c.(2392-2394)Ttc>Gtc	p.F798V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	798					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTGTTCGAAATCTATAAAC	0.373000														25			13		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176178	159176178	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159176178C>T	uc001ftp.4	+	0	1130	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	DARC_uc001fto.3_Missense_Mutation_p.P317S	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	317					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CACCCTCTTGCCCTCTCTGCC	0.567000														213			229		0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85725926	85725926	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85725926A>C	uc001pbm.3	-	4	850	c.533T>G	c.(532-534)cTt>cGt	p.L178R	PICALM_uc001pbl.3_Missense_Mutation_p.L178R|PICALM_uc001pbn.3_Missense_Mutation_p.L178R|PICALM_uc010rtl.2_Missense_Mutation_p.L127R	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	178					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAAATCAAGAAGTGCATCCAT	0.303000			T	"""MLLT10, MLL"""	"""TALL, AML, """									5			5		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566438	136566438	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136566438C>T	uc002tuu.1	-	7	3490	c.3479G>A	c.(3478-3480)aGa>aAa	p.R1160K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1160	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCTCCGTTTCTAAAAATGGG	0.567000														47			21		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157065500	157065500	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:157065500G>A	uc003lxb.1	-	3	1960	c.1618C>T	c.(1618-1620)Cta>Tta	p.L540L	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.L235L	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	540					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGCTCTCTAGAGAGACAGGA	0.527000														32			25		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245027	46245027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:46245027C>T	uc001ros.1	+	14	3121	c.3121C>T	c.(3121-3123)Caa>Taa	p.Q1041*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1041*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q497*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q668*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q375*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1041	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GATGCAAGTTCAACCTCAACA	0.512000			"""N, S, F"""		hepatocellular carcinoma									169			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230163	140230163	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140230163G>A	uc003lhu.2	+	0	2807	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.D695N	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	706					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGGTGGATGTCAACGT	0.652000														49			38		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24480778	24480778	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24480778C>T	uc002rfe.2	-	22	3125	c.2867G>A	c.(2866-2868)gGg>gAg	p.G956E	ITSN2_uc002rff.2_Missense_Mutation_p.G929E|ITSN2_uc002rfg.3_Missense_Mutation_p.G956E|ITSN2_uc002rfh.1_Non-coding_Transcript	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	956	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTTCACTCCCAGGAATGAT	0.418000														23			35		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68622908	68622908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:68622908G>A	uc002sen.4	+	8	1175	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	PLEK_uc010fde.3_3'UTR	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	338	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CGCACAGAGTGGATCAGAGCC	0.547000														21			34		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105280195	105280195	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:105280195G>A	uc001tla.3	-	4	1070	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	301						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTGAACCAACGATAACCCCAA	0.358000														2			31		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380958	22380958	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:22380958G>A	uc001mqk.3	+	4	872	c.459_splice	c.e4-1	p.R153_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	153					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTCTATTTCAGGGTTTTCGGA	0.338000														16			14		0	0	1	0	0
COX19	90639	broad.mit.edu	37	7	1009046	1009046	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1009046A>T	uc003sjp.1	-	2	331	c.241T>A	c.(241-243)Ttg>Atg	p.L81M	ADAP1_uc010ksc.3_Intron	NM_001031617	NP_001026788	Q49B96	COX19_HUMAN	Homo sapiens COX19 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX19), mRNA.	81						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCACTAGTCAAGTCTCCAAAT	0.473000														351			61		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109178087	109178087	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:109178087C>T	uc003kou.1	+	16	3588	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	875					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAGTATATAACCGTGAGATTG	0.274000														3			5		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901649	54901649	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:54901649G>A	uc001sgc.4	+	3	398	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E57K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	107					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCATGTATATGAACTTCTCAA	0.423000														49			41		0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153061897	153061897	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153061897T>C	uc004fiv.3	+	2	227	c.109T>C	c.(109-111)Tgc>Cgc	p.C37R	IDH3G_uc004fip.3_5'Flank|IDH3G_uc004fiq.3_5'Flank|IDH3G_uc004fit.1_5'Flank|SSR4_uc022chw.1_Missense_Mutation_p.C34R|SSR4_uc022chx.1_Non-coding_Transcript|SSR4_uc004fiw.3_Missense_Mutation_p.C26R	NM_001204526	NP_001191455	P51571	SSRD_HUMAN	Homo sapiens signal sequence receptor, delta (SSR4), transcript variant 1, mRNA.	26					intracellular protein transport	Sec61 translocon complex|integral to membrane	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGAGGCCTGCCTGGAGCC	0.597000														40			27		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38921755	38921755	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38921755G>A	uc003jln.2	+	11	2026	c.1624G>A	c.(1624-1626)Gga>Aga	p.G542R	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	542	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CACAGAGGGTGGATTCTCTCT	0.423000														121			21		0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46216458	46216458	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46216458T>C	uc002pcz.3	-	1	419	c.296A>G	c.(295-297)gAg>gGg	p.E99G	FBXO46_uc002pcy.3_Missense_Mutation_p.E99G|FBXO46_uc021uvz.1_Missense_Mutation_p.E99G	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	99							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCACCTTCTCCTTTGTATT	0.632000														93			24		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110682671	110682671	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110682671A>C	uc011cft.2	-	4	866	c.658_splice	c.e4+1	p.D220_splice	CFI_uc003hzq.3_Intron|CFI_uc003hzr.4_Splice_Site_p.D220_splice	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	220	LDL-receptor class A 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TACTCCACCAACCTGCTTTCT	0.403000														67			20		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47856974	47856974	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47856974A>G	uc002zji.4	+	39	9186	c.9079A>G	c.(9079-9081)Agc>Ggc	p.S3027G	PCNT_uc002zjj.3_Missense_Mutation_p.S2830G	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3027	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGACTTGAGCAGGCCCAC	0.552000														15			3		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10703308	10703308	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10703308G>A	uc001aro.3	-	18	4249	c.3929C>T	c.(3928-3930)tCc>tTc	p.S1310F		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGGAGGAAGGAGAACTGGCA	0.637000														59			26		0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870265	12870265	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:12870265T>A	uc010lsq.3	+	3	719	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	KIAA1456_uc011kxw.2_Missense_Mutation_p.L76Q|KIAA1456_uc003wwj.4_5'UTR|KIAA1456_uc010lsr.3_5'UTR	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	76							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGTGGGCCACTGGTAGAGATT	0.478000														84			28		0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612884	31612884	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31612884T>C	uc003nvg.4	-	9	1540	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	BAG6_uc003nvf.4_Missense_Mutation_p.Q403R|BAG6_uc003nvi.4_Missense_Mutation_p.Q403R|BAG6_uc003nvh.4_Missense_Mutation_p.Q403R|BAG6_uc011dnw.2_Missense_Mutation_p.Q403R|BAG6_uc011dnx.2_Missense_Mutation_p.Q403R	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	409	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P409S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGATGAGGCCTGCCCAGGACC	0.642000														141			5		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172247	95172247	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95172247C>T	uc003ygh.2	-	11	1628	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	CDH17_uc011lgo.1_Silent_p.G287G|CDH17_uc011lgp.1_Silent_p.G501G	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	501	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGTGTCAACCCCCAGGCGTC	0.398000														41			43		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21970211	21970211	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21970211T>C	uc001rfh.3	-	30	3822	c.3802A>G	c.(3802-3804)Aac>Gac	p.N1268D	ABCC9_uc001rfi.1_Missense_Mutation_p.N1268D	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1268	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAGCCAAGTTCCTCACAACC	0.388000														90			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106552532	106552532	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106552532G>A	uc021ser.1	-	1994		c.36635C>T								Parts of antibodies, mostly variable regions.																		GAGTCTCAGGGACCTGCCAGG	0.577000														3			33		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171504	39171504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:39171504G>A	uc004abi.3	-	7	1434	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	CNTNAP3_uc004abj.3_Nonsense_Mutation_p.R399*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.R399*|CNTNAP3_uc011lqs.1_Nonsense_Mutation_p.R399*	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	399	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCCACGTTCGAAATTGAAAA	0.498000														29			4		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52392002	52392002	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52392002T>C	uc011bef.2	+	23	4330	c.4069T>C	c.(4069-4071)Ttc>Ctc	p.F1357L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1357	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGCAAGTGCTTCGAGAACAT	0.602000														17			8		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225279	153225279	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153225279G>A	uc004fjp.3	-	7	1946	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	473					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGCACAGAAATGGAGCT	0.662000														2			65		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41021099	41021099	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41021099G>A	uc003opl.3	+	0	160	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	5					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCCAGAAGGAAGAGGCTGC	0.637000														45			14		0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26694950	26694951	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26694950_26694951CC>TT	uc002hbc.3	-	6	1258_1259	c.1109_1110GG>AA	c.(1108-1110)agg>aAA	p.R370K	TMEM199_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	370	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GATGCCTAAACCTTTGTTTCTT	0.649000														10			4		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400096	13400096	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:13400096C>T	uc002gob.1	-	1	1437	c.639G>A	c.(637-639)atG>atA	p.M213I		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	213						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCGTCTTCTCCATGGTGATCT	0.607000														4			64		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241537805	241537805	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241537805C>T	uc002vzk.2	+	10	2176	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Silent_p.F126F|CAPN10_uc002vzl.2_Silent_p.F505F|CAPN10_uc002vzn.2_Silent_p.F532F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	660					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGCCAGTTCCTCCAAGAGG	0.622000														22			41		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905118	15905118	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15905118C>T	uc010xos.2	+	0	260	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GACCTGCTGTCCACCCAGCGC	0.602000														46			38		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69964163	69964163	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69964163T>G	uc001suy.3	+	6	629	c.119T>G	c.(118-120)cTt>cGt	p.L40R	FRS2_uc001suz.3_Missense_Mutation_p.L40R|FRS2_uc009zrj.3_Missense_Mutation_p.L40R|FRS2_uc009zrk.3_Missense_Mutation_p.L40R	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	40	IRS-type PTB.				G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATAATGGAACTTACAGACACA	0.418000														133			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242682	126242682	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126242682C>T	uc003ifj.4	+	0	5116	c.5116C>T	c.(5116-5118)Ctg>Ttg	p.L1706L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1706	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGTCTTTACCTGGTGGATGT	0.403000														46			30		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30115558	30115558	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30115558A>C	uc003npk.2	+	5	1132	c.746A>C	c.(745-747)gAa>gCa	p.E249A	TRIM40_uc003npm.2_Missense_Mutation_p.E220A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	249						intracellular	zinc ion binding			ovary(1)	1						GGAGTCAGTGAATTGCTTCTT	0.448000														90			15		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315029	67315029	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67315029T>G	uc010cef.3	+	4	1054	c.755T>G	c.(754-756)gTt>gGt	p.V252G	PLEKHG4_uc002eso.4_Missense_Mutation_p.V252G|PLEKHG4_uc002esp.4_Missense_Mutation_p.V59G|PLEKHG4_uc002esq.4_Missense_Mutation_p.V252G|PLEKHG4_uc002esr.1_Missense_Mutation_p.V100G|PLEKHG4_uc002ess.4_Missense_Mutation_p.V252G|PLEKHG4_uc010ceg.3_Missense_Mutation_p.V171G	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	252					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACAGTGCTAGTTGATGCCCGA	0.517000														60			21		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21900165	21900165	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21900165C>T	uc001bet.3	+	8	1127	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ALPL_uc010odo.2_Silent_p.F235F|ALPL_uc010odp.2_Silent_p.F213F|ALPL_uc010odn.2_Silent_p.F238F|ALPL_uc001beu.4_Silent_p.F290F	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	290					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CAGGTCTCTTCGAGCCAGGGG	0.607000														25			13		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2819075	2819075	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2819075A>C	uc002crk.3	+	11	8360	c.7811A>C	c.(7810-7812)aAg>aCg	p.K2604T		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2604	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAAACGGAAGAGGCGCTCT	0.607000														30			10		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77845059	77845059	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77845059C>T	uc001xtq.1	+	0	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.S433F	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	433										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTAAGTATTCTGTAGGAAAC	0.388000														40			16		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587931	68587931	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:68587931G>T	uc003dnd.3	+	3	500	c.284G>T	c.(283-285)tGg>tTg	p.W95L	FAM19A1_uc003dne.3_Missense_Mutation_p.W95L|FAM19A1_uc003dng.3_Missense_Mutation_p.W95L	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	95						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGGAAATGGTGGTGTGAGATG	0.468000														174			36		4.527e-37	4.56943e-37	1	1	0
LEP	3952	broad.mit.edu	37	7	127892155	127892155	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127892155A>G	uc003vml.2	+	1	141	c.84A>G	c.(82-84)caA>caG	p.Q28Q	LEP_uc003vmm.2_Silent_p.Q28Q	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	28					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AAAAAGTCCAAGATGACACCA	0.483000														207			14		0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301646	38301646	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38301646A>C	uc002rqo.2	-	1	1288	c.886T>G	c.(886-888)Ttt>Gtt	p.F296V		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	296					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GAGAGGATAAAGGCGTCCATC	0.617000														15			7		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154557501	154557501	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154557501G>A	uc001ffh.3	-	14	3704	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	ADAR_uc021pag.1_Silent_p.S859S|ADAR_uc001ffj.3_Silent_p.S1109S|ADAR_uc001ffi.3_Silent_p.S1128S|ADAR_uc001ffk.3_Silent_p.S859S	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1154	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCCGGGACAATTCAT	0.488000														69			57		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164760925	164760925	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164760925T>G	uc003fei.3	-	16	1989	c.1926A>C	c.(1924-1926)acA>acC	p.T642T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	642	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T642R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGTTCTTCTGTGGTTTCAG	0.363000										HNSCC(35;0.089)				69			10		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285190	44285190	+	Missense_Mutation	SNP	G	A	A	rs1998749	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:44285190G>A	uc010qfe.1	-	0	676	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CCACCTCCACGACCCCTCTGT	0.473000														7			15		0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68382243	68382243	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:68382243A>G	uc002evy.2	+	14	1668	c.1324_splice	c.e14-2	p.I442_splice	PRMT7_uc010vlg.2_Splice_Site_p.I392_splice|PRMT7_uc002evz.2_Intron	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	442					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TTTCTTTCTAAGATCTTCAAG	0.358000														32			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754261	140754261	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140754261G>A	uc003ljy.2	+	0	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.G204E	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGGGAAGGAGAAGCCGTT	0.572000														3			3		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17140837	17140837	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17140837G>A	uc001mmq.4	-	15	2935	c.2870C>T	c.(2869-2871)tCc>tTc	p.S957F	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.S577F|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	957					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CACAGCTAGGGATCTTACTTC	0.378000														28			24		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165503	118165503	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:118165503A>G	uc021osq.1	+	0	13	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	FAM46C_uc001ehe.3_Missense_Mutation_p.S5G	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	5										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCAGAGGAGAGCAGCTGTAC	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				39			9		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147455	77147455	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:77147455G>A	uc011bgk.2	+	1	995	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ROBO2_uc021xat.1_Missense_Mutation_p.E134K|ROBO2_uc003dpy.4_Missense_Mutation_p.E118K|ROBO2_uc003dpz.3_Missense_Mutation_p.E118K|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	118	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTATCTTGGTGAAGCAGTGAG	0.443000														82			21		0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76518191	76518191	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:76518191T>C	uc002bbt.2	-	11	1044	c.963_splice	c.e11+1	p.K321_splice	ETFA_uc010bkq.1_Splice_Site_p.K272_splice|C15orf27_uc010bkp.3_Intron	NM_000126	NP_000117	P13804	ETFA_HUMAN	Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (ETFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	321					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CCAGCTTACCTTAAATAAATC	0.353000														5			47		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63662682	63662682	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:63662682C>T	uc001nxw.3	+	1	685	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	MARK2_uc001nxv.4_Missense_Mutation_p.R36W|MARK2_uc001nxx.3_Missense_Mutation_p.R36W|MARK2_uc001nxy.3_Missense_Mutation_p.R36W|MARK2_uc009yox.2_Missense_Mutation_p.R56W|MARK2_uc001nxz.4_Missense_Mutation_p.R3W|MARK2_uc009yoy.3_Missense_Mutation_p.R3W	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	36					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAACATGATTCGGGGCCGCAA	0.542000														29			21		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170531145	170531145	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170531145T>G	uc002ufe.2	-	3	697	c.603A>C	c.(601-603)caA>caC	p.Q201H		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	201										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						CTGCTTTTTCTTGTTCTTCTT	0.338000														32			8		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490386	58490386	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58490386G>A	uc002qqw.3	-	6	2280	c.1662C>T	c.(1660-1662)gcC>gcT	p.A554A	ZNF606_uc010yhp.2_Silent_p.A464A	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTTACTAAGGGCTGAGTAGT	0.408000														31			48		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101146573	101146573	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101146573T>C	uc003yjd.3	-	3	2430	c.1694A>G	c.(1693-1695)gAg>gGg	p.E565G	FBXO43_uc003yje.3_Missense_Mutation_p.E531G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	565					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGCAGCATCCTCGACATTTAA	0.473000														71			13		0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599198	47599198	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47599198A>T	uc001nfx.3	-	1	525	c.354T>A	c.(352-354)atT>atA	p.I118I	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Silent_p.I143I|KBTBD4_uc001nfz.3_Silent_p.I134I|KBTBD4_uc001nfy.3_Silent_p.I118I|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	118										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACACCTCATAAATTTCCTGCA	0.478000														97			34		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110026687	110026687	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110026687C>T	uc001dxr.3	+	0	127	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	38										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCGGGCCGACCTGCCCGCGGC	0.706000														49			5		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222307682	222307682	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:222307682C>T	uc002vmq.3	-	10	1983	c.1941G>A	c.(1939-1941)gaG>gaA	p.E647E	EPHA4_uc002vmr.2_Silent_p.E647E|EPHA4_uc010zlm.1_Silent_p.E588E	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	647	Protein kinase.					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)		CCACACAGATCTCTCTCTTGC	0.468000														56			25		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970883	151970883	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151970883G>A	uc003wla.3	-	6	1138	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	307					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAAGGATAATGATACATCTGG	0.438000			N		medulloblastoma									172			7		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62486992	62486992	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62486992T>C	uc002jei.3	-	3	988	c.890A>G	c.(889-891)aAg>aGg	p.K297R	POLG2_uc021ubq.1_Missense_Mutation_p.K30R|POLG2_uc010deg.2_Missense_Mutation_p.K297R	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	297					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TATTAACTCCTTTCCCCAGGG	0.428000														52			20		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170238972	170238972	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:170238972G>A	uc003mau.3	+	9	1231	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	GABRP_uc011dev.2_Missense_Mutation_p.G282E	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	345						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAACAAAGGAAGTAGAAGA	0.378000														44			25		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677636	77677636	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77677636G>A	uc011cbx.2	+	7	5697	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	SHROOM3_uc003hkg.3_Missense_Mutation_p.E1360K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1582					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATTGCAAGGGAAAGGCACAT	0.448000														11			9		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915675	119915675	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:119915675C>T	uc003vjj.1	+	0	1954	c.989C>T	c.(988-990)tCg>tTg	p.S330L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	330					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTGCTTTTCTCGCTCACCATG	0.507000														81			15		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370169	186370169	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186370169C>T	uc010hyq.3	+	7	1159	c.898C>T	c.(898-900)Cca>Tca	p.P300S	FETUB_uc011brz.2_Missense_Mutation_p.P152S|FETUB_uc003fqn.3_Missense_Mutation_p.P300S|FETUB_uc010hyr.3_Missense_Mutation_p.P263S|FETUB_uc010hys.3_Missense_Mutation_p.P152S|FETUB_uc003fqp.4_Missense_Mutation_p.P235S	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	300						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAAAGCTGGGCCAAGAGGATC	0.498000														81			123		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1573646	1573646	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1573646G>A	uc002cmb.3	-	25	3688	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	IFT140_uc002clz.3_Missense_Mutation_p.A722V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1109										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GAGCTGTAGGGCCACAAACTG	0.647000														45			15		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583407	119583407	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:119583407G>A	uc001txa.2	+	8	1381	c.993G>A	c.(991-993)ggG>ggA	p.G331G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	331	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.G331fs*37(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGATTCAGGGAACTCCTTCA	0.612000														2			8		0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602423	94602423	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:94602423C>T	uc001pfb.3	+	11	2719	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	AMOTL1_uc001pfc.3_Missense_Mutation_p.P800L	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	850						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCACCCCCACCCACCTCAGCA	0.577000														1			15		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41608633	41608633	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:41608633T>C	uc001cgo.3	-	5	668	c.299A>G	c.(298-300)gAc>gGc	p.D100G	SCMH1_uc010ojr.2_Missense_Mutation_p.D53G|SCMH1_uc001cgp.3_Missense_Mutation_p.D39G|SCMH1_uc001cgr.3_Missense_Mutation_p.D39G|SCMH1_uc001cgq.3_Missense_Mutation_p.D53G|SCMH1_uc001cgs.3_Missense_Mutation_p.D110G|SCMH1_uc001cgt.3_Missense_Mutation_p.D39G|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	100					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCGCCAGAAGTCATTTTTGTT	0.532000														152			8		0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815312	179815312	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179815312T>G	uc001gnl.3	-	6	2121	c.1307A>C	c.(1306-1308)aAc>aCc	p.N436T	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.N436T	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	436						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GTCCATGTGGTTGAAGGAGGT	0.498000														92			8		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234596107	234596107	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:234596107T>G	uc001hwd.3	-	6	1435	c.1435A>C	c.(1435-1437)Agt>Cgt	p.S479R		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	479					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAATGCCTACTTGTCATCTTC	0.393000														41			6		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933537	39933537	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:39933537G>A	uc004den.4	-	3	1354	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	BCOR_uc004dep.4_Silent_p.Y354Y|BCOR_uc004deo.4_Silent_p.Y354Y|BCOR_uc004dem.4_Silent_p.Y354Y|BCOR_uc004deq.4_Silent_p.Y354Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	354					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGAACTCCGAGTAGGTGTCTG	0.632000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							0			19		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882555	228882555	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228882555C>T	uc002vpq.2	-	6	3062	c.3015G>A	c.(3013-3015)agG>agA	p.R1005R	SPHKAP_uc002vpp.2_Silent_p.R1005R|SPHKAP_uc010zlx.1_Silent_p.R1005R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1005						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTCCGTCTTCCTCTTGATCT	0.522000														57			19		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716104	8716104	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:8716104G>A	uc001ape.3	-	2	1063	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	RERE_uc001apf.3_Missense_Mutation_p.R85C|RERE_uc001aph.1_Missense_Mutation_p.R85C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	85					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTCATAACGAGACTTTTTT	0.458000														166			177		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317580	38317580	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38317580C>T	uc003chz.3	+	6	1284	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.I410I	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	410						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCATCTTCATCCCAGCAGGTA	0.577000														14			5		0	0	1	0	0
FUT7	2529	broad.mit.edu	37	9	139926119	139926119	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139926119G>A	uc004ckq.2	-	1	921	c.72C>T	c.(70-72)ctC>ctT	p.L24L	ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.	24					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGAGGGCAGCGAGCAGAGCCA	0.711000														0			5		0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994421	53994421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53994421C>T	uc021uzf.1	+	0	211	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.S312L	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGTTTCAAATCAAACCTTAAA	0.388000														97			12		0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44952476	44952476	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:44952476A>C	uc002ikw.1	+	2	381	c.344A>C	c.(343-345)gAg>gCg	p.E115A	WNT9B_uc002ikx.1_Missense_Mutation_p.E115A	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	115					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGCTTCAAAGAGACAGCTTTC	0.647000														168			38		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8755208	8755208	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:8755208C>T	uc002wnb.3	+	26	2956	c.2953C>T	c.(2953-2955)Cat>Tat	p.H985Y	PLCB1_uc010zrb.1_Missense_Mutation_p.H884Y|PLCB1_uc002wna.3_Missense_Mutation_p.H985Y|PLCB1_uc002wnc.1_Missense_Mutation_p.H884Y|PLCB1_uc002wnd.1_Missense_Mutation_p.H562Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	985					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGCCCTGATCATGGTTCATC	0.463000														71			56		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409531	30409531	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30409531C>T	uc002wwq.2	+	3	865	c.763C>T	c.(763-765)Cag>Tag	p.Q255*		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	255					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.Q255K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACTGCTTCCAGATTTTGGG	0.642000														72			63		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100175	184100175	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184100175A>C	uc003fov.3	+	7	946	c.700_splice	c.e7-2	p.V234_splice	CHRD_uc003fow.3_Splice_Site|CHRD_uc003fox.3_Splice_Site_p.V234_splice|CHRD_uc003foy.3_Splice_Site|CHRD_uc010hyc.3_Splice_Site|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	234	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCTGCTCCAGGTCTGTGGG	0.572000														416			32		0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144698764	144698764	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144698764A>C	uc003yza.2	-	1	155	c.119T>G	c.(118-120)tTt>tGt	p.F40C	TSTA3_uc003yzb.2_Missense_Mutation_p.F40C|TSTA3_uc011lko.1_Missense_Mutation_p.F40C	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	40					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	AGAGGAGACAAACACCCAGTC	0.572000														143			8		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781540	128781540	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:128781540A>G	uc001qet.3	+	1	686	c.372A>G	c.(370-372)caA>caG	p.Q124Q	KCNJ5_uc009zck.3_Silent_p.Q124Q|KCNJ5_uc001qew.3_Silent_p.Q124Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	124					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D123Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGGCGACCAAGAGTGGATTC	0.502000														38			17		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49074213	49074213	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49074213C>T	uc004dnb.3	-	26	3184	c.3122_splice	c.e26+1	p.K1041_splice	CACNA1F_uc010nip.3_Splice_Site_p.K1030_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1041					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGGCACTCACTTGCATTCTT	0.527000														18			13		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6976948	6976948	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6976948C>T	uc001mey.3	+	6	1328	c.740C>T	c.(739-741)tCa>tTa	p.S247L	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.S9L|ZNF215_uc001mez.1_Missense_Mutation_p.S247L	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	247					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GGAGAAGAATCATCCCATGGA	0.393000														86			19		0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580334	37580334	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:37580334A>C	uc002xjg.3	+	3	1060	c.1019A>C	c.(1018-1020)aAg>aCg	p.K340T		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	310					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGCAGCAACAAGTTTGATCAC	0.552000														106			27		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918448	32918448	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32918448G>A	uc003ocm.2	-	1	307	c.221C>T	c.(220-222)tCc>tTc	p.S74F	HLA-DMA_uc011dqm.1_Missense_Mutation_p.S74F	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	74						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						AGTGTTCTGGGAAAAGTCGAA	0.542000														39			42		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567154	80567154	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:80567154G>A	uc022awk.1	+	3	719	c.337G>A	c.(337-339)Gag>Aag	p.E113K	STMN2_uc003ybj.3_Missense_Mutation_p.E113K|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	113					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GAGGGAACACGAGCGAGAAGT	0.453000														23			24		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656812	31656812	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31656812T>G	uc003nvy.2	-	12	1245	c.1166A>C	c.(1165-1167)aAg>aCg	p.K389T	ABHD16A_uc003nvx.2_Missense_Mutation_p.K170T|ABHD16A_uc011dny.2_Missense_Mutation_p.K356T|ABHD16A_uc010jtc.2_Missense_Mutation_p.K170T|ABHD16A_uc011dnz.2_Missense_Mutation_p.K170T	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	389						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGGCATGACCTTCAAGGCCAA	0.597000														33			10		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464728	104464728	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:104464728C>T	uc004ema.3	-	1	466	c.354G>A	c.(352-354)caG>caA	p.Q118Q	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.Q118Q	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	118						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTTCCGTCTCCTGCTGCTCCC	0.607000														2			22		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54157593	54157593	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54157593A>C	uc003dhf.3	+	1	224	c.176A>C	c.(175-177)aAg>aCg	p.K59T	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	59						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATTGCTGCTAAGTACTCCGGT	0.498000														73			27		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176305606	176305606	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176305606G>A	uc003mey.3	+	12	2342	c.2150G>A	c.(2149-2151)gGg>gAg	p.G717E		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	717					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGCGACGGGCAGAGCTTC	0.642000														22			24		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96282324	96282324	+	Silent	SNP	G	A	A	rs147346095	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:96282324G>A	uc001vmk.3	-	6	1581	c.729C>T	c.(727-729)atC>atT	p.I243I	DZIP1_uc001vml.3_Silent_p.I243I	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	243					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.I243I(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCAATACGACGATCTCACTCC	0.468000														15			26		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337955	40337955	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40337955C>T	uc003gva.1	+	1	192	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	59					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTGAATGTGACCCTGCAGATT	0.393000														65			24		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156716	111156716	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111156716C>T	uc001plc.3	+	3	795	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	216										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ATGACCCTTCCCCTTGGGTGA	0.537000														2			44		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476866	20476866	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20476866C>T	uc010bwe.3	+	3	444	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.4_Silent_p.L69L|ACSM2A_uc002dhg.4_Silent_p.L69L|ACSM2A_uc010vay.2_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	69					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAGCCCAGCCCTGTGGTGGGT	0.542000														11			14		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784260	82784260	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82784260G>A	uc003uhx.2	-	1	1986	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	PCLO_uc003uhv.2_Missense_Mutation_p.P566L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	512	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGCAGAGGTTTTCCAGA	0.512000														182			176		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49170215	49170215	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:49170215C>T	uc001ngy.3	-	17	2300	c.2039G>A	c.(2038-2040)gGg>gAg	p.G680E	FOLH1_uc001ngx.3_Intron|FOLH1_uc009yly.3_Missense_Mutation_p.G665E|FOLH1_uc009ylz.3_Intron|FOLH1_uc001ngz.3_Intron|FOLH1_uc009yma.3_Missense_Mutation_p.G372E	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	680					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G680G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTGGTAACCCTAATGGATC	0.289000														16			14		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802674	185802674	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185802674G>A	uc002uph.3	+	3	3145	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	851						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTAATAAGTGAAGACAAAAA	0.348000														38			14		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73808245	73808245	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:73808245C>T	uc002jpm.3	+	3	595	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	UNK_uc021udd.1_Missense_Mutation_p.R123C	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	123							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCACCTTCGTTACTACAA	0.567000														2			71		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79512807	79512807	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79512807G>A	uc002kaq.3	-	5	2348	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S	C17orf70_uc002kao.1_Missense_Mutation_p.P408S|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.P608S	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	759					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGCCATCAGGGGCCACTCCC	0.652000														26			3		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676712	7676712	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7676712A>G	uc002mgu.4	+	12	1515	c.1414A>G	c.(1414-1416)Acc>Gcc	p.T472A	CAMSAP3_uc002mgv.4_Missense_Mutation_p.T445A|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	445	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGGCCAGGACCCCCACCCA	0.706000														28			6		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926520	1926520	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1926520G>A	uc002qxe.3	-	9	1848	c.1021C>T	c.(1021-1023)Ctc>Ttc	p.L341F	MYT1L_uc002qxd.3_Missense_Mutation_p.L341F|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	341					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCTCACTGAGCTTCCTGGCC	0.572000														23			15		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251334	25251334	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:25251334G>A	uc002dod.4	-	6	3114	c.2707C>T	c.(2707-2709)Cga>Tga	p.R903*	ZKSCAN2_uc010vcl.2_Nonsense_Mutation_p.R699*	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	903					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGATGTTCTCGAAATCTCGTA	0.458000														7			28		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173804044	173804044	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:173804044G>A	uc003isv.3	+	7	1763	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	343	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGAACAGTATGAAATCTCTTT	0.423000														33			19		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266301	43266301	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43266301C>T	uc021yzt.1	+	0	304	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	SLC22A7_uc010jyl.1_Missense_Mutation_p.L69F|SLC22A7_uc003ous.3_Missense_Mutation_p.L69F|SLC22A7_uc003out.3_Missense_Mutation_p.L69F	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	69						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGAGGCCCATCTTCCCCGGGA	0.662000														29			22		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509958	169509958	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:169509958G>A	uc001ggg.1	-	12	4515	c.4370C>T	c.(4369-4371)cCt>cTt	p.P1457L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1457	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGGTCTGGAGGAGGTGATAT	0.473000														54			40		0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46700379	46700379	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:46700379C>T	uc002inx.3	-	1	840	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	212					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCCTACGGTCCCTGGTGAGGT	0.498000														119			51		0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129770447	129770447	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129770447A>C	uc003vpj.2	+	9	1325	c.1190A>C	c.(1189-1191)aAg>aCg	p.K397T	KLHDC10_uc003vpk.2_Missense_Mutation_p.K368T|KLHDC10_uc010lmb.2_Missense_Mutation_p.K294T	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	397										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TCATTGTTTAAGATCTGGCTG	0.488000														102			30		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101793384	101793384	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101793384C>T	uc001pgm.3	+	1	411	c.141C>T	c.(139-141)atC>atT	p.I47I	KIAA1377_uc001pgn.3_Silent_p.I3I	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	47							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATATGAAAATCCATCTGGAGA	0.343000														12			8		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151962177	151962177	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151962177G>A	uc003wla.3	-	7	1349	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	377					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACGTTTTAATGGAGTAACCGC	0.453000			N		medulloblastoma									392			36		0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15159163	15159163	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:15159163A>C	uc002dde.3	-	15	1687	c.1619T>G	c.(1618-1620)aTt>aGt	p.I540S	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.I408S|RRN3_uc010uzq.2_Missense_Mutation_p.I510S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	540	Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GGTACTCCTAATGACTGGCAG	0.488000														55			18		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113304581	113304581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:113304581G>A	uc010syl.2	+	6	742	c.380G>A	c.(379-381)gGa>gAa	p.G127E	RPH3A_uc001ttz.3_Missense_Mutation_p.G127E|RPH3A_uc001tty.3_Missense_Mutation_p.G123E|RPH3A_uc009zwe.1_Missense_Mutation_p.G123E|RPH3A_uc010sym.2_Missense_Mutation_p.G78E|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	127	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACCAAGTGCGGAGTGGAGACC	0.562000														0			6		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277504	44277505	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44277504_44277505CC>TT	uc003beg.3	-	7	1265_1266	c.1132_1133GG>AA	c.(1132-1134)ggc>AAc	p.G378N	PNPLA5_uc003beh.3_Missense_Mutation_p.G264N|PNPLA5_uc021wqw.1_Missense_Mutation_p.G378N|PNPLA5_uc021wqx.1_Missense_Mutation_p.G264N|PNPLA5_uc011aqc.2_Missense_Mutation_p.G238N	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	378					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTCAGCAGGCCCTGCATCCAC	0.663000														16			16		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50774163	50774164	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50774163_50774164AG>CA	uc001zym.4	+	11	2204_2205	c.1704_1705AG>CA	c.(1702-1707)gtagaa>gtCAaa	p.E569K	USP8_uc001zyk.1_Missense_Mutation_p.E270K|USP8_uc001zyl.4_Missense_Mutation_p.E569K|USP8_uc001zyn.4_Missense_Mutation_p.E569K|USP8_uc010ufh.2_Missense_Mutation_p.E492K|USP8_uc010bev.1_Missense_Mutation_p.E198K	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	569					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGAAATCTGTAGAAGATAGGGG	0.416000														0			19		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119174	25119174	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:25119174A>C	uc003abd.1	-	18	2724	c.2307T>G	c.(2305-2307)ttT>ttG	p.F769L	PIWIL3_uc011ajx.1_Missense_Mutation_p.F651L|PIWIL3_uc010gut.1_Missense_Mutation_p.F760L|PIWIL3_uc011ajy.1_Missense_Mutation_p.F651L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	769	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTTTAAGAAAAAATCTAGTGT	0.343000														37			11		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114376966	114376966	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114376966T>G	uc001eds.3	-	14	2120	c.1990A>C	c.(1990-1992)Aaa>Caa	p.K664Q	PTPN22_uc021orx.1_Intron|PTPN22_uc009wgq.3_Missense_Mutation_p.K609Q|PTPN22_uc021ory.1_Missense_Mutation_p.K640Q|PTPN22_uc010owo.2_Missense_Mutation_p.K420Q|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.K664Q|PTPN22_uc009wgs.2_Missense_Mutation_p.K537Q|PTPN22_uc001edu.2_Missense_Mutation_p.K664Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	664					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATCAAATTTCTTTGGTTCA	0.368000														62			15		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54184190	54184190	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:54184190G>A	uc004dsz.4	-	2	1044	c.961C>T	c.(961-963)Cca>Tca	p.P321S	FAM120C_uc011moh.2_Missense_Mutation_p.P321S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	321										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCCTCATCTGGGAGGATGTGG	0.433000														0			17		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141090	143141090	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143141090G>A	uc011ktg.2	+	0	545	c.545G>A	c.(544-546)gGc>gAc	p.G182D	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	182					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.G182G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AATGTCACTGGCGATAGCATA	0.408000														86			82		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48040456	48040456	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48040456T>G	uc002rwe.3	-	17	2217	c.2144A>C	c.(2143-2145)aAg>aCg	p.K715T	FBXO11_uc010fbl.3_Missense_Mutation_p.K631T|FBXO11_uc010fbk.3_Missense_Mutation_p.K139T|FBXO11_uc021vhe.1_Missense_Mutation_p.K515T	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	715					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTATCTGTCTTAATCCAGAC	0.338000			"""Mis, F, D"""		DLBCL									59			21		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17452501	17452501	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17452501G>A	uc001mnc.3	-	11	1803	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	ABCC8_uc010rcy.1_Silent_p.F558F	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	559	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGTGGCCCACGAAAGTCTGTG	0.602000														17			27		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27162912	27162912	+	Missense_Mutation	SNP	A	T	T	rs149845636		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27162912A>T	uc002rhu.4	+	8	1119	c.961A>T	c.(961-963)Atc>Ttc	p.I321F	DPYSL5_uc002rhv.4_Missense_Mutation_p.I321F|DPYSL5_uc021vev.1_Missense_Mutation_p.I321F	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	321					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCTGAACATCGTGGCATC	0.527000														35			51		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1902911	1902911	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1902911C>T	uc003gdz.4	+	1	706	c.530C>T	c.(529-531)tCc>tTc	p.S177F	WHSC1_uc003geb.4_Missense_Mutation_p.S177F|WHSC1_uc003gec.4_Missense_Mutation_p.S177F|WHSC1_uc003ged.4_Missense_Mutation_p.S177F|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.S177F|WHSC1_uc003gdy.1_Missense_Mutation_p.S177F|WHSC1_uc010icd.1_Missense_Mutation_p.S177F|WHSC1_uc003gea.1_Missense_Mutation_p.S177F|WHSC1_uc010ice.1_Missense_Mutation_p.S177F|WHSC1_uc003geg.1_Missense_Mutation_p.S177F|WHSC1_uc003geh.1_Missense_Mutation_p.S177F	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	177					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAATATGACTCCTTGCTGGAG	0.453000			T	IGH@	MM									3			34		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227964390	227964390	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:227964390G>A	uc021vxr.1	-	16	1146	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	COL4A4_uc021vxs.1_Nonsense_Mutation_p.R349*	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	349	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGTGCCCTCGATTTCCAGGA	0.403000														12			22		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186074	53186074	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53186074C>T	uc001say.3	-	4	1203	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	379	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCGATATCCTCATACTGTG	0.542000														19			8		0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96230255	96230255	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:96230255A>C	uc001vmh.2	+	4	735	c.674A>C	c.(673-675)aAt>aCt	p.N225T	CLDN10_uc001vmg.2_Missense_Mutation_p.N223T|CLDN10_uc010tii.1_Missense_Mutation_p.N204T	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	225					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTTGATAAAAATGCTTATGTC	0.398000														29			4		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7572239	7572239	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7572239A>C	uc003mxp.1	+	14	2347	c.2068A>C	c.(2068-2070)Aac>Cac	p.N690H	DSP_uc003mxq.1_Missense_Mutation_p.N690H|DSP_uc021yle.1_Missense_Mutation_p.N690H	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	690	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACTCTCAAAAACCTCCCTCT	0.463000														58			7		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1041937	1041937	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1041937G>A	uc002lqw.4	+	3	499	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.E90K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	90					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGCGAGGAGCCCGGGCG	0.667000														22			19		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140059397	140059397	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140059397G>A	uc003lgv.3	-	3	454	c.372C>T	c.(370-372)ctC>ctT	p.L124L	HARS_uc003lgu.3_Silent_p.L55L|HARS_uc011czm.2_Silent_p.L84L|HARS_uc003lgw.3_Silent_p.L124L|HARS_uc011czn.2_Silent_p.L84L|HARS_uc011czo.2_Intron|HARS_uc011czp.2_Intron|HARS_uc011czq.2_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	124					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAAGGGACAGGAGCTCCCCGC	0.463000														21			14		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21944461	21944461	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21944461T>A	uc001bev.3	-	2	89	c.71A>T	c.(70-72)gAg>gTg	p.E24V	RAP1GAP_uc001bew.3_Missense_Mutation_p.E88V|RAP1GAP_uc001bey.3_Missense_Mutation_p.E24V|RAP1GAP_uc001bex.3_Missense_Mutation_p.E24V|RAP1GAP_uc001bez.1_Missense_Mutation_p.E55V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	24					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity	p.E24Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTAGTCCTCCTCTGTCTGCAA	0.597000														90			18		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94548950	94548950	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:94548950A>G	uc001dqh.3	-	6	920	c.816T>C	c.(814-816)tcT>tcC	p.S272S	ABCA4_uc010otn.1_Silent_p.S272S	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	272					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCCTCCCCAAGATCTCAGAT	0.348000														232			13		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098088	50098088	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50098088T>C	uc002poo.4	+	3	496	c.496T>C	c.(496-498)Tcg>Ccg	p.S166P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	579	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCAGTGCCCTCGTCCCTCAG	0.672000														34			4		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343178	69343178	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69343178G>A	uc003hdz.4	+	7	863	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	267	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AATTGTCCATGAAAAATACAA	0.423000														171			66		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23198683	23198683	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23198683G>A	uc003xdh.1	-	3	904	c.565C>T	c.(565-567)Cga>Tga	p.R189*	LOC100507156_uc003xdj.3_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	189	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.R189Q(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGGATGGCTCGAATCCGAATG	0.572000														48			40		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244724017	244724017	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:244724017T>G	uc001iam.3	+	9	1136	c.1077T>G	c.(1075-1077)atT>atG	p.I359M	C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.3_Missense_Mutation_p.I359M|C1orf101_uc010pym.2_Missense_Mutation_p.I208M|C1orf101_uc010pyn.2_Missense_Mutation_p.I292M	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	359						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAAATGAAATTTACCTCGGAT	0.398000														41			14		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35808654	35808654	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:35808654C>T	uc003anu.4	+	7	1165	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MCM5_uc003anv.4_Silent_p.L314L|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.L141L	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	357	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.L356>?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGCCTGCTCTTTGGGGGCT	0.562000														28			25		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733735	152733735	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152733735G>A	uc001fal.1	+	1	1729	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	KPRP_uc021ozf.1_Silent_p.Q557Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	557						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGGGTCAGGATGGCCATG	0.537000														49			25		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825551	52825551	+	Nonsense_Mutation	SNP	G	A	A	rs146656736	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:52825551G>A	uc004drc.1	-	1	196	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	66										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTCTCCAGTTGATTTGAATGT	0.428000														1			37		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061917	100061917	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:100061917G>A	uc001pga.3	+	13	2144	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	CNTN5_uc009ywv.2_Missense_Mutation_p.G547E|CNTN5_uc001pfz.3_Missense_Mutation_p.G547E|CNTN5_uc021qpb.1_Missense_Mutation_p.G547E|CNTN5_uc021qpc.1_Missense_Mutation_p.G473E|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	547	Ig-like C2-type 5.				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)		TCAGACGAGGGAAAGTACGTT	0.383000														0			19		0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40558204	40558204	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:40558204C>T	uc003ckk.3	+	4	1268	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	ZNF620_uc003ckl.3_Silent_p.F259F	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAAGGCATTCAATCAGAAAA	0.463000														16			33		0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118674927	118674927	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:118674927G>A	uc021pzk.1	-	12	1762	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	KIAA1598_uc009xyw.3_Missense_Mutation_p.H422Y|KIAA1598_uc001lcz.4_Missense_Mutation_p.H422Y|KIAA1598_uc010qso.2_Missense_Mutation_p.H362Y|KIAA1598_uc010qsp.1_Missense_Mutation_p.H422Y|KIAA1598_uc010qsq.1_Missense_Mutation_p.H362Y|KIAA1598_uc001lcy.4_Missense_Mutation_p.H392Y	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	422					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GGTCTAAGATGAACTCCCTTT	0.368000														52			34		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631368	65631368	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65631368A>G	uc001ofv.4	+	9	1408	c.1055A>G	c.(1054-1056)cAg>cGg	p.Q352R	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	352	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TTCCGGGAGCAGAAGGTAATT	0.587000								Homologous recombination						63			22		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773128	60773128	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:60773128G>A	uc002sae.1	-	1	591	c.363C>T	c.(361-363)tgC>tgT	p.C121C	BCL11A_uc002sab.3_Silent_p.C121C|BCL11A_uc002sac.3_Silent_p.C121C|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Silent_p.C121C|BCL11A_uc002saf.1_Silent_p.C121C|BCL11A_uc010fcg.3_Silent_p.C121C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	121	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.C121S(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTGTTTGGGGCAAATTCCTC	0.448000			T	IGH@	B-CLL									105			4		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853410	12853410	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12853410C>T	uc001auj.2	+	1	137	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	12										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)		ACTACTGGAGCTGGCAGGGCA	0.552000														82			74		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477938	149477938	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149477938G>A	uc010lpk.3	+	12	1709	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	570	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGGGGACGGGCACTACCTC	0.662000														26			17		0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822585	45822585	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45822585C>T	uc002ilv.1	+	5	1672	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	487					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			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCCGGAATCCAGTGATTCAG	0.647000														1			39		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45514041	45514041	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45514041C>T	uc002zea.3	+	19	3264	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S743F|TRAPPC10_uc011afa.2_Missense_Mutation_p.S410F|TRAPPC10_uc011afb.1_Missense_Mutation_p.S137F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1032					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.S1032F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTGGATTTTCCCCAGCTTCT	0.448000														83			41		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306757	46306757	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46306757A>G	uc002zgd.2	-	13	2185	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	ITGB2_uc002zgf.3_Missense_Mutation_p.L714P|ITGB2_uc011afl.1_Missense_Mutation_p.L636P|ITGB2_uc010gpw.2_Missense_Mutation_p.L657P|ITGB2_uc002zgg.2_Missense_Mutation_p.L714P	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	714					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AATGCCGATCAGCACGATGCC	0.622000														50			6		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42026493	42026493	+	Missense_Mutation	SNP	C	T	T	rs142101815	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42026493C>T	uc003xop.3	+	9	1462	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	AP3M2_uc003xoo.3_Missense_Mutation_p.R391C|AP3M2_uc010lxe.3_Non-coding_Transcript	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	391	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAAGGTGAATCGTCTGGATAT	0.418000														43			30		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426936	116426936	+	Missense_Mutation	SNP	G	A	A	rs78385846		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:116426936G>A	uc003yny.3	-	6	3778	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	TRPS1_uc011lhy.2_Missense_Mutation_p.S1058F|TRPS1_uc003ynz.3_Missense_Mutation_p.S1054F|TRPS1_uc010mcy.3_Missense_Mutation_p.S1054F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1054	Mediates interaction with RNF4 (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTCAGATACGGATGAACTATT	0.438000									Langer-Giedion syndrome					114			27		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766564	57766564	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:57766564C>T	uc002yan.3	+	0	490	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	164						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGCACATCCGGTCCCACAC	0.627000														178			10		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88883128	88883128	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88883128A>C	uc001xwq.3	+	4	733	c.312A>C	c.(310-312)aaA>aaC	p.K104N	SPATA7_uc001xwr.3_Missense_Mutation_p.K72N|SPATA7_uc001xws.3_Missense_Mutation_p.K40N|SPATA7_uc001xwt.3_5'UTR	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	104					response to stimulus|visual perception			p.T103T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATTAACTAAAACTGCAATGC	0.279000														30			8		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29649154	29649154	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:29649154G>A	uc001rix.1	-	2	241	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	81	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTAACAACCCGATCTTCTTGA	0.473000														11			8		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16453244	16453244	+	Missense_Mutation	SNP	G	A	A	rs146106216		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:16453244G>A	uc003jfq.3	-	4	1304	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	395						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCTCATCAAGGAGCGATGACC	0.473000														78			126		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87735639	87735639	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87735639C>T	uc003hpz.3	+	47	7873	c.7393C>T	c.(7393-7395)Ctt>Ttt	p.L2465F	PTPN13_uc003hpy.3_Missense_Mutation_p.L2470F|PTPN13_uc003hqa.3_Missense_Mutation_p.L2446F|PTPN13_uc003hqb.3_Missense_Mutation_p.L2274F	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2465	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGTCATCCTTTATGTCCT	0.348000														27			11		0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33718367	33718367	+	Silent	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:33718367C>G	uc010xcg.2	+	3	483	c.423C>G	c.(421-423)ctC>ctG	p.L141L	ELP2_uc002kzk.2_Silent_p.L141L|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Silent_p.L141L|ELP2_uc010xch.2_Silent_p.L141L|ELP2_uc002kzn.2_Silent_p.L141L|ELP2_uc002kzo.2_Silent_p.L141L	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	141					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGTTCGACTCTGGTCTAAAA	0.408000														3			23		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17550096	17550096	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:17550096A>G	uc010hev.3	-	4	230	c.-34_splice	c.e4-1		TBC1D5_uc003cbf.3_Splice_Site|TBC1D5_uc003cbe.3_Splice_Site	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.							intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAAGTAACTACCTGGGAGGT	0.373000														29			9		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165608	185165608	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185165608A>C	uc010hyf.3	+	5	1174	c.883A>C	c.(883-885)Att>Ctt	p.I295L	MAP3K13_uc011brt.2_Missense_Mutation_p.I88L|MAP3K13_uc003fph.4_Missense_Mutation_p.I63L|MAP3K13_uc011bru.2_Missense_Mutation_p.I151L|MAP3K13_uc003fpi.3_Missense_Mutation_p.I295L|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	295	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGCGGTAAAAATTTCAGATTT	0.388000														86			16		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641513	156641513	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156641513T>G	uc001fpq.3	-	3	2600	c.2467A>C	c.(2467-2469)Aca>Cca	p.T823P	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	823	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGATCTCTGTTTCTAAAGAT	0.418000														46			12		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877191	76877191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76877191C>T	uc001oyb.2	+	14	2052	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	MYO7A_uc010rsl.2_Nonsense_Mutation_p.Q594*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.Q583*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.Q594*	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	594	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGATCTTCCAGGCCGATGT	0.592000														23			24		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52874586	52874586	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52874586A>G	uc003dgc.4	-	7	940	c.809T>C	c.(808-810)gTg>gCg	p.V270A	TMEM110-MUSTN1_uc003dgb.4_5'UTR|TMEM110-MUSTN1_uc003dgd.3_Missense_Mutation_p.V270A	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		GTCCTCCTCCACGTCGGACTC	0.587000														110			22		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394965	94394965	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94394965G>A	uc001ybz.2	+	2	845	c.520G>A	c.(520-522)Gag>Aag	p.E174K	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.E112K|FAM181A_uc021saz.1_Missense_Mutation_p.E112K|FAM181A_uc010aus.2_Missense_Mutation_p.E112K|FAM181A_uc001yca.2_Missense_Mutation_p.E112K	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	174										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TCTTGCTAAGGAGCAGCTCCC	0.632000														26			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413442	179413442	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179413442C>T	uc021vsy.1	-	287	85432	c.85207G>A	c.(85207-85209)Gat>Aat	p.D28403N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D22098N|TTN_uc021vta.1_Missense_Mutation_p.D22031N|TTN_uc021vtb.1_Missense_Mutation_p.D21906N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29330	Fibronectin type-III 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATGGATATCAGCCCGAAGG	0.478000														25			49		0	0	1	0	0
MED7	9443	broad.mit.edu	37	5	156565770	156565770	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156565770G>A	uc010jik.3	-	1	1065	c.673C>T	c.(673-675)Cta>Tta	p.L225L	MED7_uc003lwm.4_Silent_p.L225L|MED7_uc021ygl.1_Silent_p.L225L	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	225					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATCAATTAGGACACACAAG	0.328000														36			26		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160122251	160122251	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:160122251C>T	uc003fdh.3	+	4	759	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	IFT80_uc003fda.3_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.H216Y|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.H191Y|SMC4_uc003fdj.3_Missense_Mutation_p.H216Y|SMC4_uc010hwd.3_Missense_Mutation_p.H216Y|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	216					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTTCGAAGCCATGGAATTGA	0.308000														1			34		0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718225	24718225	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24718225A>G	uc002zzw.3	+	4	1580	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	SPECC1L_uc002zzv.4_Missense_Mutation_p.Q426R|SPECC1L_uc011ajq.2_Missense_Mutation_p.Q426R|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	426					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GATTTACAGCAGATTACCCAG	0.458000														82			24		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546699	11546699	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11546699C>T	uc010shk.1	-	2	348	c.313G>A	c.(313-315)Gga>Aga	p.G105R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607000														698			12		0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59058985	59058985	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:59058985G>A	uc022auu.1	+	0	196	c.196G>A	c.(196-198)Gag>Aag	p.E66K	FAM110B_uc003xtj.1_Missense_Mutation_p.E66K	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	66						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAAGAGCCAGGAGGTGATCAA	0.692000														27			28		0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74235009	74235009	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:74235009C>T	uc001jtb.2	-	7	965	c.782G>A	c.(781-783)aGa>aAa	p.R261K	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.R63K|MICU1_uc010qjw.2_Missense_Mutation_p.R63K|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TGGACGATCTCTGTGGCGCAT	0.443000														0			6		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9047305	9047305	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9047305T>C	uc001mhi.2	-	19	2702	c.2627A>G	c.(2626-2628)aAg>aGg	p.K876R	SCUBE2_uc021qdk.1_Missense_Mutation_p.K352R|SCUBE2_uc001mhj.2_Missense_Mutation_p.K712R	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	904	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCATTGGACTTGAACTGAAT	0.507000														136			7		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089054	86089054	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:86089054C>T	uc021rxf.1	+	0	1196	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	FLRT2_uc001xvr.3_Missense_Mutation_p.T399I|FLRT2_uc010atd.3_Missense_Mutation_p.T399I	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	399					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGCCTCCAACTCCTACCACA	0.542000														48			19		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013283	49013283	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49013283A>T	uc002pjk.3	-	3	445	c.445T>A	c.(445-447)Tca>Aca	p.S149T		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCAGTACCTGAGTGTGAAGGC	0.622000														37			8		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618973	175618973	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:175618973C>T	uc002ujd.2	-	5	667	c.589G>A	c.(589-591)Gac>Aac	p.D197N	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.D172N|CHRNA1_uc002ujf.4_Missense_Mutation_p.D172N	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	197					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACAGAGCCGTCGTAGGTCCAG	0.507000														28			43		0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724592	112724592	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:112724592A>C	uc010ljv.2	-	1	702	c.185T>G	c.(184-186)cTt>cGt	p.L62R	GPR85_uc003vgp.1_Missense_Mutation_p.L62R|GPR85_uc003vgq.2_Missense_Mutation_p.L62R|GPR85_uc010ljw.1_Missense_Mutation_p.L62R|GPR85_uc022akd.1_Missense_Mutation_p.L62R	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGAACAGCAAAGATCCAACAG	0.423000														132			4		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642629	37642629	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37642629C>T	uc002ofo.1	-	4	2403	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	ZNF585A_uc002ofm.1_Silent_p.G669G|ZNF585A_uc002ofn.1_Silent_p.G669G	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCCTTCCCACACTCAG	0.468000														59			26		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845455	39845455	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39845455C>A	uc010lwy.1	+	6	796	c.554C>A	c.(553-555)gCt>gAt	p.A185D	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	172					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTGGTGACTGCTTTGGTAGAG	0.463000														9			11		2.27111e-07	2.27804e-07	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73850100	73850100	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73850100A>C	uc003xzb.3	+	2	3098	c.2510A>C	c.(2509-2511)aAg>aCg	p.K837T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	837					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTGCAGATAAGCCTAGTGAT	0.517000														60			14		0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86144429	86144429	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:86144429T>G	uc001dlh.3	-	6	1273	c.1124A>C	c.(1123-1125)aAa>aCa	p.K375T	ZNHIT6_uc010osc.2_Missense_Mutation_p.K336T	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	375					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AATGTAAGGTTTTAGGATTTC	0.254000														60			7		0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24001300	24001300	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:24001300A>G	uc003ccs.2	+	3	830	c.511A>G	c.(511-513)Aga>Gga	p.R171G	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.R96G	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	171					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.R171I(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TGGAATGTCAAGAGATGGTAT	0.398000														63			23		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108359220	108359221	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:108359220_108359221GG>AA	uc003ymn.3	-	1	870_871	c.402_403CC>TT	c.(400-405)ctcctc>ctTTtc	p.L135F	ANGPT1_uc003ymo.3_Missense_Mutation_p.L135F	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	135					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTCTGAGAGAGGAGGCTGGTTC	0.485000														62			59		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94134742	94134742	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:94134742C>T	uc003kkx.2	-	17	2532	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MCTP1_uc003kkv.2_Silent_p.G623G|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Silent_p.G505G|MCTP1_uc003kku.2_Silent_p.G360G	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	844					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTTATCTTTCCCTGATATTA	0.368000														14			8		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135096647	135096647	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:135096647G>A	uc010qvc.1	-	15	2665	c.2308C>T	c.(2308-2310)Ccc>Tcc	p.P770S	TUBGCP2_uc001lmf.1_Missense_Mutation_p.P335S|TUBGCP2_uc001lmg.1_Missense_Mutation_p.P742S|TUBGCP2_uc010qvd.1_Missense_Mutation_p.P612S|TUBGCP2_uc009ybk.1_Missense_Mutation_p.P765S|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	742					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.M769I(1)|p.K770R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCAGCTCGGGGTTGGTGAGC	0.607000														4			45		0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41397211	41397211	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41397211C>T	uc003xnx.3	+	4	522	c.312C>T	c.(310-312)ttC>ttT	p.F104F	GINS4_uc022aug.1_Intron	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	104					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGAAGTTTTTCCCTCATGTCC	0.458000														51			25		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18197822	18197822	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:18197822C>T	uc003nco.1	+	4	617	c.542C>T	c.(541-543)tCa>tTa	p.S181L	KDM1B_uc003ncn.1_Missense_Mutation_p.S252L	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	384					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.T181T(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTAAGAAATCAGTCATCATT	0.403000														17			15		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411768	50411768	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50411768T>G	uc002prb.3	-	1	1541	c.1297A>C	c.(1297-1299)Acc>Ccc	p.T433P	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.T433P|NUP62_uc002pqy.3_Missense_Mutation_p.T433P|NUP62_uc002pra.3_Missense_Mutation_p.T433P|NUP62_uc002pqz.3_Missense_Mutation_p.T433P|NUP62_uc002prc.3_Missense_Mutation_p.T357P|NUP62_uc021uya.1_Missense_Mutation_p.T433P	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	433					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCTTGTAGGTTTTCTCACGC	0.602000														134			10		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110926051	110926051	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:110926051A>C	uc002tfn.4	-	5	696	c.602T>G	c.(601-603)cTt>cGt	p.L201R	NPHP1_uc002tfm.4_Missense_Mutation_p.L201R|NPHP1_uc002tfl.4_Missense_Mutation_p.L201R|NPHP1_uc002tfo.4_Missense_Mutation_p.L139R|NPHP1_uc010ywx.2_Missense_Mutation_p.L201R|NPHP1_uc010fjv.1_Missense_Mutation_p.L201R	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	201	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCTGGGAACAAGACCTTCATT	0.343000														44			20		0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108193032	108193032	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:108193032T>G	uc003psc.4	-	20	2428	c.2159A>C	c.(2158-2160)aAg>aCg	p.K720T	SEC63_uc003psb.4_Missense_Mutation_p.K547T	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	720					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K720K(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGGCACAGGCTTAGCCTCATG	0.413000														38			16		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427417	27427417	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:27427417T>G	uc011aww.2	-	22	3679	c.3458A>C	c.(3457-3459)aAg>aCg	p.K1153T	SLC4A7_uc011awx.2_Missense_Mutation_p.K1140T|SLC4A7_uc021wun.1_Missense_Mutation_p.K1029T|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.K1136T|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.K1025T|SLC4A7_uc011axb.2_Missense_Mutation_p.K1140T|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.K1025T|SLC4A7_uc010hfl.3_Missense_Mutation_p.K694T|SLC4A7_uc003cdv.3_Missense_Mutation_p.K1144T|SLC4A7_uc003cdw.3_Missense_Mutation_p.K1020T	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1144						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						atcttctttctttttcttact	0.343000														50			12		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572009	79572009	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:79572009G>A	uc001jzk.3	-	20	4222	c.4152C>T	c.(4150-4152)caC>caT	p.H1384H	DLG5_uc001jzi.3_Silent_p.H139H|DLG5_uc001jzj.3_Silent_p.H799H|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1384	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGCCAGCCTGGTGAGCGATGC	0.617000														6			39		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802358	185802358	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185802358G>A	uc002uph.3	+	3	2829	c.2235G>A	c.(2233-2235)atG>atA	p.M745I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	745						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAATGATATGAAACACATGA	0.333000														20			14		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484002	150484002	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150484002A>G	uc001euv.3	+	6	1058	c.859A>G	c.(859-861)Acg>Gcg	p.T287A	ECM1_uc010pcf.2_3'UTR|ECM1_uc010pce.2_3'UTR|ECM1_uc001eus.3_Missense_Mutation_p.T260A|ECM1_uc001eut.3_Intron|ECM1_uc009wlu.3_Missense_Mutation_p.T20A	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	260	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	p.H287Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGGTGCTGCACGCGGCAGGG	0.622000														76			21		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203869	5203869	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5203869C>T	uc009xhz.2	-	2		c.411G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TAGTCCGGTCCAAGTTTCTTC	0.408000														26			14		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594855	50594855	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50594855G>A	uc010qgq.2	-	3	299	c.299C>T	c.(298-300)gCc>gTc	p.A100V	DRGX_uc021pqd.1_Missense_Mutation_p.A95V	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	100					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGGTCTGAGGCCCCTCTCTC	0.562000														9			47		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742683	102742683	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102742683C>T	uc001phk.3	-	3	448	c.351_splice	c.e3-1	p.R117_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	117					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATTATTGATTCTTTATCAGCA	0.373000														0			15		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611808	44611808	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44611808C>T	uc002oyh.2	+	5	1812	c.1495C>T	c.(1495-1497)Ctt>Ttt	p.L499F	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	499					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAATTCACATCTTCATTCCCA	0.408000														62			25		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8159395	8159395	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8159395T>G	uc002mjf.3	-	45	5857	c.5840A>C	c.(5839-5841)aAc>aCc	p.N1947T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1947	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCTCGAGGTTCTGGCAAGT	0.602000														26			10		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	521129	521129	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:521129A>C	uc001qig.3	+	3	435	c.255A>C	c.(253-255)gaA>gaC	p.E85D	CCDC77_uc009zdk.3_Missense_Mutation_p.E53D|CCDC77_uc010sdp.2_Missense_Mutation_p.E53D|CCDC77_uc010sdq.2_Missense_Mutation_p.E53D	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	85						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TCTACAAAGAAGCTTGTGAAG	0.413000														46			9		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10799891	10799891	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10799891C>T	uc002mpn.3	+	19	2905	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	ILF3_uc002mpo.3_Missense_Mutation_p.S867F|ILF3_uc002mpq.3_Missense_Mutation_p.P166S	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	863	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TCCCCGGGGTCCGGCCAGAAC	0.602000														161			110		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55398982	55398982	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:55398982C>T	uc002lgw.3	-	1	178	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	LOC100505549_uc002lgv.1_Non-coding_Transcript	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	20					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGAACCACTTCGTCATTAGGC	0.443000														12			81		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25011013	25011013	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:25011013G>A	uc003aan.1	+	6	788	c.301G>A	c.(301-303)Gct>Act	p.A101T	GGT1_uc003aas.1_Missense_Mutation_p.A101T|GGT1_uc003aat.1_Missense_Mutation_p.A101T|GGT1_uc003aau.2_Missense_Mutation_p.A101T|GGT1_uc003aav.2_Missense_Mutation_p.A101T|GGT1_uc003aaw.2_Missense_Mutation_p.A101T|GGT1_uc003aax.2_Missense_Mutation_p.A101T	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	101					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCTAGGAAAAGCTGAGGTCAT	0.632000														24			18		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60584706	60584706	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:60584706T>G	uc001vht.3	-	7	1088	c.869A>C	c.(868-870)aAa>aCa	p.K290T	DIAPH3_uc001vhu.3_Missense_Mutation_p.K27T|DIAPH3_uc001vhw.1_Missense_Mutation_p.K279T|DIAPH3_uc010aed.1_Missense_Mutation_p.K244T|DIAPH3_uc010aee.1_Missense_Mutation_p.K220T|BC032915_uc001vhy.3_5'Flank	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	290	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGAGAGAAGTTTAACCACATC	0.383000														15			3		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686280	181686280	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181686280C>T	uc009wxt.3	+	10	1562	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	CACNA1E_uc001gow.3_Missense_Mutation_p.S456F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S456F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	456					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACGGGGTCTCTTATTTCCGG	0.498000														68			33		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22163357	22163357	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22163357G>A	uc009vqd.3	-	74	10336	c.10296C>T	c.(10294-10296)ctC>ctT	p.L3432L	HSPG2_uc001bfj.3_Silent_p.L3431L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3431	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGAACCAACGGAGCTGGGTAC	0.667000														6			5		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20852582	20852582	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:20852582T>G	uc010sii.2	+	2	427	c.72T>G	c.(70-72)tcT>tcG	p.S24S	SLCO1C1_uc010sij.2_Silent_p.S24S|SLCO1C1_uc009zip.3_5'UTR|SLCO1C1_uc001rei.3_Silent_p.S24S|SLCO1C1_uc010sik.2_Intron	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	24					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAAGGCCTTCTTTTAAAACAG	0.383000														40			11		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458000														46			18		0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455745	42455745	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42455745G>A	uc002igt.1	-	19	2111	c.2079C>T	c.(2077-2079)gcC>gcT	p.A693A	ITGA2B_uc002igu.1_Silent_p.A174A	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		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)	CATTGCTTAGGGCCCGCATGT	0.652000														11			23		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142488	18142488	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:18142488C>T	uc021wbb.1	+	4	1144	c.707C>T	c.(706-708)cCc>cTc	p.P236L	CSRP2BP_uc002wqk.3_Missense_Mutation_p.P108L|CSRP2BP_uc010zru.2_Missense_Mutation_p.P107L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	236					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ACTTTAGATCCCATCATTACT	0.413000														44			52		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183212431	183212431	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:183212431G>A	uc001gqa.2	+	22	3792	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1160	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCATTTGCTGGAGACAAGCAT	0.552000														42			38		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172052739	172052739	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:172052739T>A	uc003fhy.3	+	14	1819	c.1647T>A	c.(1645-1647)acT>acA	p.T549T	FNDC3B_uc003fhz.4_Silent_p.T549T|FNDC3B_uc003fia.3_Silent_p.T480T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	549	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCTAGCTGACTGCTTCTAATA	0.438000														234			25		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173835	7173835	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7173835T>G	uc001qsj.3	+	10	1604	c.885T>G	c.(883-885)ccT>ccG	p.P295P	C1S_uc001qsk.3_Silent_p.P295P|C1S_uc001qsl.3_Silent_p.P295P|C1S_uc009zfr.3_Silent_p.P128P|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	295	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGCCCTGCCCTAAGGAAGACA	0.418000														40			17		0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938918	154938918	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154938918G>T	uc001ffv.3	-	7	1280	c.1059C>A	c.(1057-1059)ttC>ttA	p.F353L	SHC1_uc001ffw.3_Missense_Mutation_p.F353L|SHC1_uc001ffx.3_Missense_Mutation_p.F243L|SHC1_uc001ffy.3_Missense_Mutation_p.F243L|SHC1_uc001ffz.1_Missense_Mutation_p.F124L	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	353	CH1.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTCCCCGGGAAGTCATTAT	0.607000														16			16		2.35188e-11	2.36399e-11	1	1	0
SYNPO2	171024	broad.mit.edu	37	4	119978694	119978694	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119978694C>T	uc010inb.3	+	4	3587	c.3391C>T	c.(3391-3393)Cct>Tct	p.P1131S	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Missense_Mutation_p.P1001S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	782						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGACCAACTCCTTGGGAAGC	0.478000														41			21		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957002	33957002	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33957002A>C	uc001bxj.4	+	5	1311	c.1144A>C	c.(1144-1146)Aac>Cac	p.N382H	ZSCAN20_uc001bxk.2_Missense_Mutation_p.N328H|ZSCAN20_uc009vui.3_Missense_Mutation_p.N382H	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	382					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TAGGGTCAAAAACCTCCTACG	0.582000														191			21		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428576	64428576	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64428576A>C	uc021qkw.1	-	9	2296	c.1834T>G	c.(1834-1836)Ttg>Gtg	p.L612V	NRXN2_uc021qkx.1_Missense_Mutation_p.L581V|NRXN2_uc001oas.3_Missense_Mutation_p.L581V|NRXN2_uc001oaq.3_Missense_Mutation_p.L279V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	612	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGTGGCCAAGAACGGCGTG	0.617000														39			10		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361255	105361255	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105361255A>C	uc003ylx.1	+	1	524	c.475A>C	c.(475-477)Agt>Cgt	p.S159R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	159					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CACTCCACTAAGTGTATTTGA	0.443000														93			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470335	179470335	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179470335C>T	uc021vsy.1	-	227	46208	c.45983G>A	c.(45982-45984)gGa>gAa	p.G15328E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9023E|TTN_uc021vta.1_Missense_Mutation_p.G8956E|TTN_uc021vtb.1_Missense_Mutation_p.G8831E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16255	Ig-like 97.						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)			AATGATATATCCTTGGATGGG	0.448000														38			71		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477589	31477589	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31477589C>T	uc010vfn.2	+	7	2596	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D	ARMC5_uc010vfo.2_Silent_p.D761D|ARMC5_uc002ecc.3_Silent_p.D729D|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Silent_p.D537D	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	729							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGACCTAGACTCACCTTCCC	0.632000														31			7		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143792319G>A	uc011kty.2	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000														38			31		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232551	71232551	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71232551A>C	uc002jjm.4	+	2	1124	c.930A>C	c.(928-930)aaA>aaC	p.K310N	C17orf80_uc010wqu.1_Missense_Mutation_p.K310N|C17orf80_uc010dfj.3_Missense_Mutation_p.K310N|C17orf80_uc002jjk.1_Missense_Mutation_p.K310N|C17orf80_uc002jjl.4_Missense_Mutation_p.K310N	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	310						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GTGGGAGCAAAGGAAATGCAG	0.448000														21			11		0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268513	45268513	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45268513A>G	uc001cmn.3	+	5	835	c.735A>G	c.(733-735)tcA>tcG	p.S245S		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	245	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATGTATGGTCACTGGGCTGTG	0.602000														97			9		0	0	1	0	0
SGK196	84197	broad.mit.edu	37	8	42978010	42978010	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42978010A>G	uc003xpw.2	+	4	1302	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	348	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										CAGGCAAGAGAGATGCTGTGA	0.493000														97			10		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754399	31754399	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:31754399G>A	uc002rnw.1	-	4	744	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	226					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AAAGCTCGCAGCCCAAGGAAA	0.463000														28			9		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183646565	183646565	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183646565A>G	uc003fmg.3	-	26	4068	c.3903T>C	c.(3901-3903)gaT>gaC	p.D1301D	ABCC5_uc011bqt.2_Silent_p.D829D|ABCC5_uc010hxl.3_Silent_p.D1258D	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1301	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTCCAGGGCATCCCAAATCT	0.512000														129			5		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639027	169639027	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169639027C>T	uc003fgd.3	+	3	379	c.112C>T	c.(112-114)Cca>Tca	p.P38S	SAMD7_uc003fge.3_Missense_Mutation_p.P38S|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	38										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CACCGTAGCTCCAACTGACCC	0.413000														210			19		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220213566	220213566	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220213566G>A	uc001hly.1	-	1	362	c.92C>T	c.(91-93)tCc>tTc	p.S31F	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.S31F|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	31					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	p.S31S(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCTTCAACGGAAATGCTGAC	0.303000														54			37		0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70742364	70742364	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:70742364A>T	uc001jov.1	+	14	2238	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G	DDX21_uc001jow.1_Silent_p.G648G	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	716						nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACTGGAAGGACCACGGGAAG	0.537000														34			12		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539715	56539715	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56539715A>G	uc002qmj.3	+	6	2116	c.2116A>G	c.(2116-2118)Agc>Ggc	p.S706G	NLRP5_uc002qmi.3_Missense_Mutation_p.S687G	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	706						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGCATTAAACAGCTTCCAAGA	0.512000														246			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047843	9047843	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9047843T>A	uc002mkp.3	-	4	33992	c.33788A>T	c.(33787-33789)aAt>aTt	p.N11263I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11265	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAATGAGATATTTGTAAACGG	0.478000														16			11		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263867	48263867	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48263867T>C	uc002iqm.3	-	49	3941	c.3815_splice	c.e49-1	p.G1272_splice	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1272	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCCAGTACTCTCCTGTGGTAG	0.577000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							53			14		0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409494	47409494	+	Silent	SNP	C	T	T	rs140854817		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:47409494C>T	uc010acr.3	-	3	1583	c.894G>A	c.(892-894)tcG>tcA	p.S298S	HTR2A_uc001vbr.3_Silent_p.S214S	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	298					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCCTATGGATCGACCGCTGGA	0.507000														19			17		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444293	20444293	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20444293C>T	uc010tkx.2	+	0	616	c.616C>T	c.(616-618)Cct>Tct	p.P206S		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGACCTTCCTCTAGTGAC	0.423000														59			81		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212568915	212568915	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:212568915G>A	uc002veg.1	-	10	1301	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	ERBB4_uc002veh.1_Silent_p.F401F|ERBB4_uc010zji.1_Silent_p.F401F|ERBB4_uc010zjj.1_Silent_p.F401F|ERBB4_uc010fut.1_Silent_p.F401F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	401					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTATGTTCAGGAAACCTACAA	0.353000										TSP Lung(8;0.080)				24			24		0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42848679	42848679	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42848679A>T	uc003osq.1	+	1	100	c.95A>T	c.(94-96)aAg>aTg	p.K32M	RPL7L1_uc011dux.1_Missense_Mutation_p.K32M|RPL7L1_uc010jxw.1_Intron|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Missense_Mutation_p.K32M|RPL7L1_uc003ost.3_Missense_Mutation_p.K32M|RPL7L1_uc003oss.2_Intron	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Homo sapiens ribosomal protein L7-like 1 (RPL7L1), mRNA.	32					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			ACCCAGGCAAAGCAGGCACTT	0.418000														35			6		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618279	37618279	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37618279C>T	uc002yvg.3	+	18	4080	c.4001C>T	c.(4000-4002)tCg>tTg	p.S1334L	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1283L|DOPEY2_uc002yvh.3_Missense_Mutation_p.S185L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1334					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGAAGGTCTCGCACCGAGAC	0.562000														90			84		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721218	63721218	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:63721218C>T	uc003tsx.3	+	3	442	c.173C>T	c.(172-174)gCt>gTt	p.A58V		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACAGGTATTGCTGTCTCTAAG	0.333000														12			15		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29246015	29246015	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:29246015C>T	uc010ezl.3	+	11	1926	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	FAM179A_uc010ymm.2_Silent_p.L470L|FAM179A_uc002rmr.4_Silent_p.L52L	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	525							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAGGTCCTCACCGGGAAGC	0.627000														1			4		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792901	131792901	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131792901T>C	uc003ytd.4	-	17	3747	c.3491A>G	c.(3490-3492)aAa>aGa	p.K1164R	ADCY8_uc010mds.3_Missense_Mutation_p.K1033R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1164					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G1163*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGTTTTGATTTTTCCTTCCTG	0.517000										HNSCC(32;0.087)				93			5		0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61066506	61066506	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61066506G>A	uc002lix.3	-	7	1101	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	VPS4B_uc010dpx.3_Missense_Mutation_p.P281S|VPS4B_uc010dpy.3_Missense_Mutation_p.P163S|VPS4B_uc010dpz.1_Missense_Mutation_p.P163S	NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	281					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAACCCAGGGTATATTTGTA	0.348000														2			36		0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43581767	43581767	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43581767C>T	uc003ovq.4	+	10	1919	c.1615C>T	c.(1615-1617)Cta>Tta	p.L539L	POLH_uc010jyu.2_Silent_p.L415L|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Silent_p.L440L	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	539					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAGTCTGCTTCTAAAGCAGAA	0.423000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					110			26		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943076	20943076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20943076C>T	uc001vxo.4	+	3	576	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_Nonsense_Mutation_p.Q15*	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	144					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TTTCAGTGGTCAGAACCCTCT	0.473000														41			17		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48272458	48272458	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48272458C>T	uc002iqm.3	-	19	1429	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	435	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G434D(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGGTTCACCCTGCAAG	0.632000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							1			24		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175726	55175726	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55175726C>T	uc002qgp.3	+	3	807	c.445C>T	c.(445-447)Cca>Tca	p.P149S	LILRB4_uc002qgq.3_Missense_Mutation_p.P149S|LILRB4_uc010ers.1_Missense_Mutation_p.P62S|LILRB4_uc010ert.3_Missense_Mutation_p.P190S|LILRB4_uc010eru.3_Missense_Mutation_p.P178S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	149	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCACGGAGCCCAATGGACAC	0.567000														110			48		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669947	24669947	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24669947G>A	uc001iru.4	+	2	907	c.504G>A	c.(502-504)gcG>gcA	p.A168A	KIAA1217_uc001irs.3_Silent_p.A88A|KIAA1217_uc001irt.4_Silent_p.A168A|KIAA1217_uc010qcy.2_Silent_p.A168A|KIAA1217_uc010qcz.2_Silent_p.A168A|KIAA1217_uc001irv.1_Silent_p.A18A|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	168					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGACTCGTGCGAGCCTTCCTG	0.522000														40			31		0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117058379	117058379	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117058379A>G	uc001pqg.2	+	11	1164	c.1123A>G	c.(1123-1125)Agc>Ggc	p.S375G	SIDT2_uc010rxe.1_Missense_Mutation_p.S375G|SIDT2_uc001pqh.1_Missense_Mutation_p.S375G|SIDT2_uc001pqi.1_Missense_Mutation_p.S379G	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	375						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCTGGTTGACAGCGCTGGCAC	0.592000														42			7		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2702413	2702413	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2702413C>T	uc009zdu.1	+	18	2878	c.2565C>T	c.(2563-2565)gtC>gtT	p.V855V	CACNA1C_uc001qkc.2_Silent_p.V855V|CACNA1C_uc001qjz.2_Silent_p.V855V|CACNA1C_uc001qkd.2_Silent_p.V855V|CACNA1C_uc001qke.2_Silent_p.V855V|CACNA1C_uc001qkf.2_Silent_p.V855V|CACNA1C_uc009zdw.1_Silent_p.V855V|CACNA1C_uc001qkg.2_Silent_p.V855V|CACNA1C_uc001qkh.2_Silent_p.V855V|CACNA1C_uc001qkl.2_Silent_p.V855V|CACNA1C_uc001qkj.2_Silent_p.V855V|CACNA1C_uc001qkk.2_Silent_p.V855V|CACNA1C_uc001qkn.2_Silent_p.V855V|CACNA1C_uc001qkm.2_Silent_p.V855V|CACNA1C_uc001qko.2_Silent_p.V855V|CACNA1C_uc001qkp.2_Silent_p.V855V|CACNA1C_uc001qkq.2_Silent_p.V855V|CACNA1C_uc001qku.2_Silent_p.V855V|CACNA1C_uc001qkr.2_Silent_p.V855V|CACNA1C_uc001qks.2_Silent_p.V855V|CACNA1C_uc001qkt.2_Silent_p.V855V|CACNA1C_uc009zdv.1_Silent_p.V852V|CACNA1C_uc001qkb.2_Silent_p.V855V|CACNA1C_uc001qka.1_Silent_p.V390V|CACNA1C_uc001qki.1_Silent_p.V591V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	855					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGATGCCTGTCGGCCCTCGCC	0.502000														20			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282593	152282593	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152282593T>C	uc001ezu.1	-	2	4805	c.4769A>G	c.(4768-4770)cAg>cGg	p.Q1590R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1590	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGATCCCTGGCGCCTGCT	0.587000									Ichthyosis					235			62		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822535	16822535	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:16822535C>T	uc010rcu.1	-	16	2410	c.2395G>A	c.(2395-2397)Gcc>Acc	p.A799T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A799T|PLEKHA7_uc010rcv.2_Missense_Mutation_p.A373T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A507T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	799					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AAAAAAAAGGCTCTTCTGTGT	0.443000														109			67		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531940	50531940	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50531940C>T	uc021pqb.1	+	0	1350	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	C10orf71_uc021pqa.1_Silent_p.I449I|C10orf71_uc021pqc.1_Silent_p.I450I	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	450										endometrium(1)	1						TGACCCCCATCATACCCAGCA	0.532000														2			23		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17457565	17457565	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:17457565A>G	uc003zmz.2	+	18	3181	c.3155A>G	c.(3154-3156)gAt>gGt	p.D1052G	CNTLN_uc003zmy.3_Missense_Mutation_p.D1053G|CNTLN_uc010mio.3_Missense_Mutation_p.D732G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1053						centriole|membrane	two-component sensor activity	p.E1052V(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAAAGAAGATTTACTAAAG	0.289000														42			15		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441445	58441445	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:58441445A>C	uc002yaz.3	-	39	4362	c.4223T>G	c.(4222-4224)aTt>aGt	p.I1408S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1408					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.R1407M(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGTTTTTTAATCCTATTACA	0.264000														26			14		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15262023	15262023	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:15262023C>T	uc001mlz.3	+	11	1535	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	INSC_uc001mly.3_Missense_Mutation_p.S522F|INSC_uc001mma.3_Missense_Mutation_p.S475F|INSC_uc010rcs.2_Missense_Mutation_p.S510F|INSC_uc001mmb.3_Missense_Mutation_p.S475F|INSC_uc001mmc.3_Missense_Mutation_p.S433F	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	522					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTCTGCAGATCCCCATCAGAG	0.622000														20			6		0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064658	64064658	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64064658G>A	uc001nzj.1	+	3	704	c.381G>A	c.(379-381)ggG>ggA	p.G127G	KCNK4_uc009ypl.1_Missense_Mutation_p.G100E|KCNK4_uc001nzk.1_Missense_Mutation_p.G61E|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.G61E|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.G127G|KCNK4_uc001nzo.2_Silent_p.G127G|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	127						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCTGGTGGGGATTCCGCTGT	0.622000														44			45		0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1836547	1836547	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1836547A>C	uc002cmw.4	+	1	115	c.26A>C	c.(25-27)aAc>aCc	p.N9T	NUBP2_uc002cmx.4_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	9						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAGCCTGGAAACCTGGCCGGC	0.642000														64			15		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618411	37618411	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37618411G>A	uc002ofl.3	+	4	733	c.518G>A	c.(517-519)gGg>gAg	p.G173E		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCAATGCGGGAAGGCCTTT	0.428000														46			13		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184985	167184985	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167184985G>A	uc003fes.1	-	2	437	c.366C>T	c.(364-366)taC>taT	p.Y122Y	SERPINI2_uc003fer.1_Silent_p.Y112Y|SERPINI2_uc003fet.1_Silent_p.Y112Y	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	112					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTCTTGAAGGTAGAGGGCAT	0.353000														59			34		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734464	12734464	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:12734464C>T	uc004cuz.2	+	14	2392	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	FRMPD4_uc011mij.2_Missense_Mutation_p.S621F	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	629					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTCAGCGGTCCCTATTGACC	0.507000														7			70		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364190	5364190	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5364190C>T	uc001map.1	-	0	565	c.565G>A	c.(565-567)Gat>Aat	p.D189N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.D189N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGTGGTATCAGCACAGGCG	0.433000														63			73		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167712	6167712	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:6167712G>A	uc003mwv.3	-	12	2010	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	F13A1_uc011dib.2_Silent_p.T566T	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	629					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTCAGGGATGGTTAGCACGG	0.507000														45			30		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454472	84454472	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:84454472G>A	uc001vlk.3	-	0	2057	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCGATTTTCGGATGCTGTGG	0.448000														107			59		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933883	73933883	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73933883C>T	uc003uaq.3	+	5	1143	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GTF2IRD1_uc010lbq.3_Silent_p.S282S|GTF2IRD1_uc003uap.3_Silent_p.S250S|GTF2IRD1_uc003uar.1_Silent_p.S250S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	250						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCGCCACCTCCTCCTCCATGG	0.672000														37			30		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885752	89885752	+	RNA	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89885752T>G	uc009wcy.1	+	2		c.292T>G								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		CCTTGCAGGCTTCTCTCTGGG	0.498000														64			5		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780311	121780311	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:121780311G>A	uc003ksw.1	+	7	1682	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	SNCAIP_uc011cwl.1_Silent_p.K50K|SNCAIP_uc003ksy.1_Silent_p.K126K|SNCAIP_uc003ksx.1_Silent_p.K539K|SNCAIP_uc003ksz.1_Silent_p.K126K|SNCAIP_uc010jcu.2_Silent_p.K88K|SNCAIP_uc011cwm.1_Silent_p.K126K|SNCAIP_uc003kta.1_Silent_p.K124K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.K186K|SNCAIP_uc010jcx.1_Silent_p.K432K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.K8K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	492					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)		CTGGGGAAAAGCCCTCCCAGA	0.542000														30			21		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831647	72831647	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:72831647A>C	uc002fck.3	-	8	5607	c.4934T>G	c.(4933-4935)aTt>aGt	p.I1645S	ZFHX3_uc002fcl.3_Missense_Mutation_p.I731S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1645					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTCAAGGAAATACTGCTGCT	0.547000														24			15		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52867645	52867645	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52867645T>C	uc003dgc.4	-	8	1131	c.1000A>G	c.(1000-1002)Atg>Gtg	p.M334V	ITIH4_uc011bem.2_5'Flank|ITIH4_uc003dfz.3_5'Flank|ITIH4_uc011ben.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|ITIH4_uc010hmq.1_Non-coding_Transcript|TMEM110-MUSTN1_uc003dga.4_Missense_Mutation_p.M44V|TMEM110-MUSTN1_uc003dgb.4_Missense_Mutation_p.M44V	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		CACTCTCGCATGACCTGGTAG	0.577000														11			7		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26808662	26808662	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:26808662T>G	uc001rhg.3	-	19	2985	c.2568A>C	c.(2566-2568)gaA>gaC	p.E856D		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	856					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTTTATTTTTTTCTTTATCCC	0.333000														42			9		0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001264	13001264	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:13001264C>T	uc001auq.2	-	2	505	c.419G>A	c.(418-420)aGg>aAg	p.R140K	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	140								p.P139Q(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		TCCTCTCATCCTTGGACAGTC	0.512000														728			30		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602433	64602433	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64602433A>C	uc001obs.4	-	17	2063	c.2063T>G	c.(2062-2064)gTg>gGg	p.V688G		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	688					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTCATCATTCACCCTGAATGG	0.637000														56			11		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47463708	47463708	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:47463708G>A	uc003tnw.3	-	9	822	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TNS3_uc010kyo.1_Missense_Mutation_p.S155F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	155	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCGTTTTTGGGAAGGCTGCAT	0.433000														34			20		0	0	1	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174410	44174410	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44174410C>T	uc010zxc.2	-	2	161	c.92_splice	c.e2-1	p.R31_splice	SPINLW1-WFDC6_uc002xou.3_Splice_Site_p.R31_splice|SPINLW1-WFDC6_uc002xov.2_Intron	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	31						extracellular region	serine-type endopeptidase inhibitor activity										GGACATCTCCCTAGGGAAAGA	0.463000														59			57		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933408	70933408	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:70933408A>G	uc021vjc.1	-	2	398	c.133T>C	c.(133-135)Ttc>Ctc	p.F45L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.F45L|ADD2_uc002sgz.3_Missense_Mutation_p.F45L|ADD2_uc010fdt.2_Missense_Mutation_p.F45L|ADD2_uc002shc.2_Missense_Mutation_p.F45L|ADD2_uc010fdu.2_Missense_Mutation_p.F61L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	45					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATCAGGTTGAAGTCCTGCCGC	0.682000														52			5		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441772	140441772	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140441772A>G	uc010ncj.1	-	2	519	c.182T>C	c.(181-183)cTt>cCt	p.L61P	PNPLA7_uc004cnf.2_Missense_Mutation_p.L36P	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	36					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R61W(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAATTGTCTAAGCCTTCTGAA	0.592000														89			34		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137929	72137929	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:72137929C>T	uc001xms.3	+	7	2710	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	SIPA1L1_uc001xmt.3_Silent_p.F783F|SIPA1L1_uc001xmu.3_Silent_p.F783F|SIPA1L1_uc001xmv.3_Silent_p.F783F|SIPA1L1_uc010ttm.2_Silent_p.F258F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	783	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGGGACTTCCTTTTGGCGA	0.498000														105			86		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70340915	70340915	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:70340915T>G	uc004dyy.3	+	4	847	c.648T>G	c.(646-648)ggT>ggG	p.G216G	MED12_uc011mpq.1_Silent_p.G216G|MED12_uc004dyz.3_Silent_p.G216G|MED12_uc004dza.3_Silent_p.G63G	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	216					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G216G(3)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCTGTGGTTCCACGATAG	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							34			14		0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7345984	7345984	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7345984T>C	uc002ggz.3	+	3	731	c.480T>C	c.(478-480)gcT>gcC	p.A160A	SPEM1_uc010vtw.1_3'UTR|FGF11_uc010cmi.3_Silent_p.A36A|FGF11_uc010vtx.2_Silent_p.A101A|CHRNB1_uc002ghb.3_5'Flank|CHRNB1_uc010vty.2_5'Flank	NM_004112	NP_004103	Q92914	FGF11_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	160					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACGCCTCTGCTCTCTACCGCC	0.557000														253			19		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078383	6078383	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6078383G>A	uc001qnn.1	-	44	7973	c.7723C>T	c.(7723-7725)Cgc>Tgc	p.R2575C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2575					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTACCACAGCGACAGCTTGGG	0.567000														12			7		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43924322	43924322	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:43924322A>G	uc010yny.2	+	6	598	c.515A>G	c.(514-516)aAg>aGg	p.K172R	PLEKHH2_uc002rte.3_Missense_Mutation_p.K172R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.K171R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	172						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTCAAGGAAAGAAGTCATCC	0.373000														76			23		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33629236	33629236	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:33629236G>A	uc001uus.3	+	2	1391	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	KL_uc001uur.1_Missense_Mutation_p.M154I	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	461	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTCCCTCATGGATGGTTTCG	0.527000														68			34		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100359905	100359905	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100359905A>C	uc003uwj.3	+	19	4075	c.3910A>C	c.(3910-3912)Aag>Cag	p.K1304Q	ZAN_uc003uwk.3_Missense_Mutation_p.K1304Q|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'UTR	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1304	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACCACCTGAAGTTGGACGG	0.587000														54			8		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671355	233671355	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233671355C>T	uc002vtj.4	+	16	2124	c.1857C>T	c.(1855-1857)ccC>ccT	p.P619P	GIGYF2_uc010zmj.1_Silent_p.P598P|GIGYF2_uc002vtg.2_Silent_p.P592P|GIGYF2_uc002vti.4_Silent_p.P598P|GIGYF2_uc002vtk.4_Silent_p.P598P|GIGYF2_uc002vth.4_Silent_p.P592P|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Silent_p.P429P	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	598	Gln-rich.				cell death		protein binding	p.P619P(1)|p.P598P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTCCAGCTCCCCCTCCTCATA	0.428000														67			24		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702607	120702607	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:120702607G>A	uc001pxn.2	+	6	845	c.558G>A	c.(556-558)aaG>aaA	p.K186K	GRIK4_uc009zav.1_Silent_p.K186K|GRIK4_uc009zaw.1_Silent_p.K186K|GRIK4_uc009zax.1_Silent_p.K186K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	186					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTATCTCCAAGGACACGCTGT	0.597000														2			50		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363184	108363184	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:108363184C>T	uc003dxd.3	+	13	1737	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	DZIP3_uc003dxf.1_Missense_Mutation_p.L439F|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.L439F|DZIP3_uc003dxg.1_Missense_Mutation_p.L162F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	439					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTACAACCATCTTTGGACCAA	0.418000														7			44		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622266	234622266	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234622266G>A	uc002vuw.3	+	0	629	c.629G>A	c.(628-630)aGg>aAg	p.R210K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.R210K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	209					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R209L(2)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCCTGCAAAGGGTCAAGAAC	0.473000														49			101		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851159	43851159	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:43851159A>C	uc010ggz.3	+	1	943	c.886A>C	c.(886-888)Aga>Cga	p.R296R	SEMG2_uc002xnk.3_Silent_p.R296R|SEMG2_uc002xnl.3_Silent_p.R296R	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	296	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TACAGAAGAAAGACAACTTCA	0.388000														45			23		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651464	135651464	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135651464C>T	uc003lbn.2	-	2	1006	c.784G>A	c.(784-786)Gat>Aat	p.D262N	TRPC7_uc010jef.2_Missense_Mutation_p.D253N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	262					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.N261N(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCTGTAATCGTTCTAACAG	0.483000														5			6		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958145	119958145	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:119958145G>A	uc001ehs.3	+	0	876	c.103G>A	c.(103-105)Gac>Aac	p.D35N	HSD3B2_uc021ost.1_Missense_Mutation_p.D35N|HSD3B2_uc001eht.3_Missense_Mutation_p.D35N|HSD3B2_uc001ehu.3_Missense_Mutation_p.D35N	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	35					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CAGGGCCTTGGACAAGGCCTT	0.532000														47			64		0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472048	55472048	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:55472048C>T	uc003jqu.3	-	3	395	c.243G>A	c.(241-243)ttG>ttA	p.L81L		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	80										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTCCCATCTTCAACAGCAGCT	0.502000														60			37		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242766	7242766	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7242766C>T	uc010sfy.2	-	2	369	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	C1R_uc010sfz.1_Missense_Mutation_p.E118K|C1R_uc021quh.1_5'UTR|C1R_uc010sga.1_Intron	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	104	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACATAAATTCCTTCTTTCCC	0.537000														6			6		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29631291	29631291	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29631291C>T	uc001bru.3	+	17	2832	c.2703C>T	c.(2701-2703)ttC>ttT	p.F901F	PTPRU_uc009vtq.3_Silent_p.F891F|PTPRU_uc009vtr.3_Silent_p.F891F|PTPRU_uc001brw.3_Silent_p.F891F	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	901	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGTAGAGCTTCTTTGAAGGCT	0.602000														22			22		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023653	18023653	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18023653G>A	uc001ban.3	+	28	3777	c.3618G>A	c.(3616-3618)gaG>gaA	p.E1206E	ARHGEF10L_uc001bao.3_Silent_p.E1167E|ARHGEF10L_uc001bap.3_Silent_p.E1162E|ARHGEF10L_uc001baq.3_Silent_p.E967E|ARHGEF10L_uc010ocs.2_Silent_p.E979E|ARHGEF10L_uc001bar.3_Silent_p.E909E|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.E230E	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1206					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACAGCGAGGAGGACGGCTCCA	0.697000														16			19		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7893021	7893021	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:7893021C>T	uc003jed.3	+	10	1663	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	MTRR_uc003jee.4_Missense_Mutation_p.P518S|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	545	FAD-binding FR-type.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGCCCTGGCTCCTAAGGTAAG	0.443000														28			8		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410568	100410568	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100410568T>G	uc003uwn.1	-	11	2410	c.1919A>C	c.(1918-1920)aAg>aCg	p.K640T	EPHB4_uc003uwm.1_Missense_Mutation_p.K547T|EPHB4_uc010lhj.1_Missense_Mutation_p.K640T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	640	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACAGCTCTCCTTCTTCCCTGG	0.627000														191			12		0	0	1	0	0
AK094599	0	broad.mit.edu	37	2	133070534	133070534	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:133070534G>A	uc002ttk.1	+	2		c.188G>A								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		ACCAAGACGTGATGCTGGAAA	0.433000														84			9		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645344	94645344	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:94645344A>C	uc001dqj.4	-	19	2786	c.2417T>G	c.(2416-2418)cTt>cGt	p.L806R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.L372R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	806	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGTCTTAGAAGGTCTTTGCT	0.294000														74			6		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780890	94780890	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94780890C>T	uc001ycv.3	-	1	200	c.96G>A	c.(94-96)atG>atA	p.M32I	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	32					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GATGGTTACTCATGTTCACAT	0.537000														86			63		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408763	47408763	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47408763C>T	uc003gxh.3	+	7	1274	c.900C>T	c.(898-900)atC>atT	p.I300I	GABRB1_uc011bze.2_Silent_p.I230I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	300					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCCAAAGATCCCTTATGTCA	0.448000														35			17		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183094850	183094850	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:183094850G>A	uc002uos.3	-	6	690	c.606C>T	c.(604-606)acC>acT	p.T202T	PDE1A_uc010zfp.1_Silent_p.T98T|PDE1A_uc002uoq.1_Silent_p.T202T|PDE1A_uc010zfq.1_Silent_p.T202T|PDE1A_uc002uor.3_Silent_p.T186T|PDE1A_uc002uou.3_Silent_p.T168T	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	202	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTTCTGCAAAGGTGATTAGGC	0.348000														8			24		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134941914	134941914	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:134941914C>T	uc001llw.3	+	15	2739	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	GPR123_uc001llx.4_Silent_p.F194F			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTGTGTACTTCCTGGGCACCT	0.711000														3			13		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300567	110300567	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110300567A>G	uc011eav.2	+	2	541	c.297A>G	c.(295-297)acA>acG	p.T99T	GPR6_uc011eaw.2_Silent_p.T84T|GPR6_uc003ptu.3_Silent_p.T84T|GPR6_uc021zds.1_Silent_p.T84T	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	84						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGTCGGGGACAGTGATCGCTG	0.677000														91			36		0	0	1	0	0
C1orf135	79000	broad.mit.edu	37	1	26161490	26161490	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26161490T>G	uc001bkw.1	-	2	1068	c.1068A>C	c.(1066-1068)caA>caC	p.Q356H		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	Homo sapiens chromosome 1 open reading frame 135 (C1orf135), mRNA.	356										NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTTAGAATTGGTGTCTGA	0.418000														203			25		0	0	1	0	0
AV1S4A1N1T	0	broad.mit.edu	37	14	22322627	22322627	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22322627C>T	uc001wcc.3	+	3	516	c.317C>T	c.(316-318)cCt>cTt	p.P106L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 414.																		TGTCTTCTACCTTTGATAAGA	0.413000														21			24		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20000019	20000019	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:20000019C>T	uc002gwq.3	+	1	165	c.55C>T	c.(55-57)Cca>Tca	p.P19S	SPECC1_uc010cqx.3_Missense_Mutation_p.P19S|SPECC1_uc002gwr.3_Missense_Mutation_p.P19S|SPECC1_uc002gws.3_Missense_Mutation_p.P19S	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	19						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGGCCACGGCCCAGACCGGGT	0.572000														7			135		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073460	134073460	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134073460C>T	uc004cag.3	+	28	4690	c.4579C>T	c.(4579-4581)Ccc>Tcc	p.P1527S	NUP214_uc004cah.3_Missense_Mutation_p.P1517S|NUP214_uc004cai.3_Missense_Mutation_p.P957S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P353S|NUP214_uc011mcf.1_Missense_Mutation_p.P304S|NUP214_uc010mzh.1_Missense_Mutation_p.P41S|NUP214_uc010mzi.1_Missense_Mutation_p.P41S	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1527	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCCCAGCTTCCCCAGGCTCC	0.527000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									52			15		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31343037	31343037	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:31343037T>C	uc002hht.3	-	8	2415	c.1542A>G	c.(1540-1542)ttA>ttG	p.L514L	ASIC2_uc002hhu.3_Silent_p.L463L	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	463					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CAAGCAGGTCTAATAGCTTCT	0.552000														41			18		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70338449	70338449	+	Silent	SNP	T	C	C	rs76137199		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:70338449T>C	uc001oqc.3	-	17	2344	c.2232A>G	c.(2230-2232)tcA>tcG	p.S744S	SHANK2_uc010rqn.2_Silent_p.S220S|SHANK2_uc001opz.3_Silent_p.S215S|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.S212S|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Silent_p.S23S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	431					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGTTCATGTCTGAGCCCGCCG	0.677000														61			7		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151452	168151452	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:168151452C>T	uc010jjg.3	-	20	2728	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	SLIT3_uc003mab.3_Missense_Mutation_p.E770K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	770					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGACAGCTCTCTGGGCACG	0.512000														13			16		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642526	122642526	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122642526G>A	uc003efz.1	-	9	1514	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SEMA5B_uc011bju.1_Missense_Mutation_p.R346C|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R404C|SEMA5B_uc010hro.1_Missense_Mutation_p.R346C|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	404	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.R404C(2)|p.R458C(1)|p.R404H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCCTGGTAGCGAAATGGGCCA	0.557000														4			121		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087335	117087335	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:117087335A>C	uc004bik.4	+	4	554	c.443A>C	c.(442-444)aAg>aCg	p.K148T	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	148					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GCAGCTGACAAGCCAGAGACG	0.617000														29			8		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73450916	73450916	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73450916T>G	uc003tzw.3	+	3	254	c.163_splice	c.e3+2	p.A55_splice	ELN_uc003tzm.1_Splice_Site|ELN_uc003tzn.3_Splice_Site_p.A55_splice|ELN_uc003tzy.3_Intron|ELN_uc003tzz.3_Splice_Site_p.A55_splice|ELN_uc003tzo.3_Splice_Site_p.A55_splice|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Splice_Site_p.A55_splice|ELN_uc003tzr.3_Splice_Site|ELN_uc003tzs.3_Splice_Site_p.A55_splice|ELN_uc003tzt.3_Splice_Site_p.A55_splice|ELN_uc003tzu.3_Splice_Site_p.A55_splice|ELN_uc003tzv.3_Intron|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Intron|ELN_uc011kff.2_Splice_Site_p.A55_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	55					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GAGGAGGAGGTGAGCTCAGAA	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							87			19		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323613	37323613	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:37323613T>G	uc003cgv.3	+	2	687	c.327T>G	c.(325-327)agT>agG	p.S109R	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Missense_Mutation_p.S131R|GOLGA4_uc010hgs.3_Missense_Mutation_p.S109R|GOLGA4_uc003cgx.3_5'UTR|GOLGA4_uc003cgu.2_Missense_Mutation_p.S131R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	109					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACCTGGACAGTTCTACTGCCA	0.448000														61			17		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807885	209807885	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209807885G>A	uc001hhg.3	-	4	861	c.471C>T	c.(469-471)ttC>ttT	p.F157F	LAMB3_uc009xco.3_Silent_p.F157F|LAMB3_uc001hhh.3_Silent_p.F157F|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	157	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGACCCGAGGGAAGGTGGAGG	0.637000														27			32		0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869979	52869979	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52869979C>T	uc002pyx.4	+	5	1754	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	ZNF610_uc002pyy.4_Missense_Mutation_p.H450Y|ZNF610_uc002pyz.4_Missense_Mutation_p.H407Y|ZNF610_uc002pza.3_Missense_Mutation_p.H450Y	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCGGAAAATTCATGCTGGAGA	0.418000														67			33		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153407	133153407	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133153407C>T	uc003ytj.3	-	9	1659	c.1434G>A	c.(1432-1434)atG>atA	p.M478I	KCNQ3_uc003yti.3_Missense_Mutation_p.M358I|KCNQ3_uc010mdt.3_Missense_Mutation_p.M478I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	478					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R477H(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)			CGTAGGCTTTCATGCGGAAGG	0.478000														59			46		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917313	25917313	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:25917313T>A	uc011dkb.2	-	5	735	c.652A>T	c.(652-654)Agc>Tgc	p.S218C	SLC17A2_uc011dkc.2_Missense_Mutation_p.S218C|SLC17A2_uc003nfl.3_Missense_Mutation_p.S218C			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	218					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.S218S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCAGTGCTACCTGGGAAG	0.458000														76			17		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257577	9257577	+	Missense_Mutation	SNP	A	T	T	rs141465808	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9257577A>T	uc002knv.3	+	8	4576	c.4312A>T	c.(4312-4314)Aat>Tat	p.N1438Y	ANKRD12_uc002knw.3_Missense_Mutation_p.N1415Y|ANKRD12_uc002knx.3_Missense_Mutation_p.N1415Y|ANKRD12_uc010dkx.1_Missense_Mutation_p.N1145Y	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1438						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TATCTGCCCAAATTCTAACAT	0.383000														118			5		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894410	151894410	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:151894410G>A	uc003qol.3	+	5	965	c.876G>A	c.(874-876)aaG>aaA	p.K292K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	292																	ATGCCTCAAAGCAGGAAGTGA	0.488000														15			18		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814738	128814738	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:128814738T>G	uc003ifo.3	+	11	2667	c.2393T>G	c.(2392-2394)tTt>tGt	p.F798C	PLK4_uc011cgs.2_Missense_Mutation_p.F766C|PLK4_uc011cgt.2_Missense_Mutation_p.F757C	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	798					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGTGCTCCCTTTTTCCCAATA	0.303000														24			5		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689344	49689344	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49689344A>C	uc003cxe.4	+	4	2469	c.2355A>C	c.(2353-2355)gaA>gaC	p.E785D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	785					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)		AGGAAGACGAAGACTCTGCTG	0.592000														20			15		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508742	71508742	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71508742T>G	uc011caw.1	+	8	1880	c.1599T>G	c.(1597-1599)acT>acG	p.T533T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	533					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAGAAACTAATCAGTCAG	0.408000														68			43		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77397598	77397598	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77397598C>T	uc004ajl.1	-	21	3329	c.3091G>A	c.(3091-3093)Gat>Aat	p.D1031N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1026N|TRPM6_uc022bib.1_Missense_Mutation_p.D1026N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1031					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TACACACCATCTATTTCTCCA	0.373000														21			18		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661948	4661948	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4661948G>A	uc010qyk.2	+	0	1004	c.928G>A	c.(928-930)Gag>Aag	p.E310K		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E310Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGACCAAAGAGATCTGTTC	0.493000														34			37		0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:27806651T>C	uc003nju.1	+	0	273	c.212T>C	c.(211-213)tTc>tCc	p.F71S	HIST1H2AK_uc003njs.3_5'Flank|HIST1H2BN_uc003njt.1_Non-coding_Transcript|HIST1H2BN_uc003njv.3_Missense_Mutation_p.F71S	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	Homo sapiens histone cluster 1, H2bn (HIST1H2BN), mRNA.	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607000														125			123		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909099	23909099	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23909099T>G	uc001uon.2	-	9	9505	c.8916A>C	c.(8914-8916)ccA>ccC	p.P2972P	SACS_uc001uoo.2_Silent_p.P2825P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2972					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.P2825P(1)|p.P2972P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATATAAATCTGGCTGTAGAT	0.378000														59			25		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61745786	61745786	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:61745786G>T	uc011cqr.2	+	3	522	c.392G>T	c.(391-393)cGt>cTt	p.R131L	IPO11_uc003jtc.3_Missense_Mutation_p.R91L	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	91						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ACTACTCTGCGTGCAGGGCTC	0.333000														17			12		9.31168e-06	9.3296e-06	1	1	0
EFNA1	1942	broad.mit.edu	37	1	155106494	155106494	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155106494T>G	uc001fhh.3	+	4	674	c.569T>G	c.(568-570)cTt>cGt	p.L190R	EFNA1_uc001fhi.3_Missense_Mutation_p.L168R|SLC50A1_uc001fhj.4_5'Flank|SLC50A1_uc001fhk.4_5'Flank|SLC50A1_uc001fhl.4_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Homo sapiens ephrin-A1 (EFNA1), transcript variant 1, mRNA.	190					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTTCCCACTTGCCTGGACT	0.582000														35			10		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994914	144994914	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144994914G>A	uc003zaf.1	-	31	9656	c.9486C>T	c.(9484-9486)gtC>gtT	p.V3162V	PLEC_uc003zab.1_Silent_p.V3025V|PLEC_uc003zac.1_Silent_p.V3029V|PLEC_uc003zad.2_Silent_p.V3025V|PLEC_uc003zae.1_Silent_p.V2993V|PLEC_uc003zag.1_Silent_p.V3003V|PLEC_uc003zah.2_Silent_p.V3011V|PLEC_uc003zaj.2_Silent_p.V3052V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3162	Globular 2.		V -> I (in dbSNP:rs35027700).		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCCGCGATGACGTTGGCAC	0.642000														44			29		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438107	124438107	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124438107G>A	uc003ehg.3	+	59	8878	c.8751G>A	c.(8749-8751)gtG>gtA	p.V2917V	KALRN_uc003ehk.3_Silent_p.V1220V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2916	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCATCAATGTGATCTTACAGG	0.512000														3			71		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117307203	117307203	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:117307203G>A	uc001egu.4	+	3	740	c.711G>A	c.(709-711)agG>agA	p.R237R	CD2_uc010owz.1_Silent_p.R237R|CD2_uc010oxa.1_3'UTR	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	237					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TCACCAAAAGGAAAAAACAGA	0.493000														39			8		0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161089989	161089989	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161089989T>C	uc001fxv.2	+	5	789	c.684T>C	c.(682-684)gcT>gcC	p.A228A	PFDN2_uc001fxu.3_5'Flank|NIT1_uc001fxw.3_Silent_p.A228A|NIT1_uc010pka.2_Silent_p.A213A|NIT1_uc001fxy.2_Silent_p.A192A	NM_005600	NP_001172023	Q86X76	NIT1_HUMAN	Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.	228	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATCCTTCAGCTTTTGGATCCA	0.493000														80			22		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084284	31084284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31084284G>A	uc003nsm.2	-	1	1164	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	370	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCACTGGCTGGAATGCAATG	0.632000														9			9		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084839	3084839	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:3084839G>A	uc003bpc.3	+	21	3029	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R568Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R897Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R569Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R568Q|CNTN4_uc003bpg.3_Missense_Mutation_p.R153Q	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	897					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGACAACCCGAAAGCCACGT	0.438000														20			15		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748871	41748871	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41748871A>C	uc010ehj.3	+	10	1586	c.1396A>C	c.(1396-1398)Atc>Ctc	p.I466L	AXL_uc010ehi.1_Missense_Mutation_p.I466L|AXL_uc010ehk.3_Missense_Mutation_p.I457L|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	466						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTGTGTCCTCATCTTGGCTCT	0.582000														80			17		0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024602	71024602	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71024602T>C	uc003hfa.4	+	3	706	c.633T>C	c.(631-633)tcT>tcC	p.S211S	C4orf40_uc003hfb.4_Silent_p.S211S	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	211						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCACCCTTCTCCCTCTCTTG	0.488000														36			8		0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6252913	6252913	+	Missense_Mutation	SNP	G	A	A	rs140515272		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6252913G>A	uc003zjt.3	+	4	469	c.391G>A	c.(391-393)Gat>Aat	p.D131N	IL33_uc011lmg.2_Intron|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.D89N	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	131					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CACATACAATGATCAATCCAT	0.303000														15			21		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164755792	164755792	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164755792C>T	uc003fei.3	-	20	2385	c.2322G>A	c.(2320-2322)agG>agA	p.R774R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	774	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W773C(1)|p.W773*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCCGTTGTTTCCTCCATGGCC	0.333000										HNSCC(35;0.089)				44			10		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815735	12815735	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12815735C>T	uc001auh.3	+	1	413	c.197C>T	c.(196-198)tCc>tTc	p.S66F	C1orf158_uc010obe.1_Missense_Mutation_p.S66F	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	66										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAGATCTCCAGGTGGTAT	0.527000														54			9		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212677	10212677	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10212677C>T	uc002gmk.1	-	34	5133	c.5043G>A	c.(5041-5043)agG>agA	p.R1681R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1681					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGAGGCCATTCCTGCGCTCCA	0.642000														18			16		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761409	55761409	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55761409C>T	uc010riv.2	-	0	693	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)|p.S230L(1)|p.S230*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GCCTCCCCTCCCCCGAATGCA	0.478000														23			35		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584556	189584556	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:189584556G>A	uc003fry.2	+	5	941	c.852G>A	c.(850-852)caG>caA	p.Q284Q	TP63_uc003frx.2_Silent_p.Q284Q|TP63_uc003frz.2_Silent_p.Q284Q|TP63_uc010hzc.1_Silent_p.Q284Q|TP63_uc003fsa.2_Silent_p.Q190Q|TP63_uc003fsb.2_Silent_p.Q190Q|TP63_uc003fsc.2_Silent_p.Q190Q|TP63_uc003fsd.2_Silent_p.Q190Q|TP63_uc021xir.1_Silent_p.Q190Q|TP63_uc010hzd.1_Silent_p.Q105Q|TP63_uc003fse.1_Silent_p.Q165Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	284					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGGAAGACAGAGTGTGCTGG	0.458000										HNSCC(45;0.13)				87			42		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194157933	194157933	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:194157933A>G	uc003fty.4	-	18	2413	c.2011T>C	c.(2011-2013)Ttt>Ctt	p.F671L	ATP13A3_uc003ftz.1_Missense_Mutation_p.F377L	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	671					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACGTTTTGAAAATCGACAGGA	0.343000														124			15		0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255339	30255339	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30255339T>C	uc002ymo.1	-	1	215	c.189A>G	c.(187-189)ctA>ctG	p.L63L	N6AMT1_uc002ymp.1_Silent_p.L63L|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	63					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.F62L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TCATAGAGGCTAGGAATGCAG	0.338000														47			14		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203329679	203329679	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:203329679G>A	uc002uzf.4	+	1	1372	c.224G>A	c.(223-225)gGg>gAg	p.G75E	BMPR2_uc010ftr.3_Missense_Mutation_p.G75E|BMPR2_uc002uze.3_Missense_Mutation_p.G75E	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	75					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAATCAAAAGGGGACATAAAT	0.378000														75			22		0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459683	122459683	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122459683T>G	uc003efu.2	-	7	1115	c.976A>C	c.(976-978)Aat>Cat	p.N326H	HSPBAP1_uc003eft.2_Missense_Mutation_p.N37H	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	326						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCATTTAAGTAGCAA	0.383000														66			47		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806606	33806606	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33806606A>C	uc002hjn.3	-	2	1424	c.710T>G	c.(709-711)cTt>cGt	p.L237R	SLFN12L_uc021tuy.1_Missense_Mutation_p.L208R	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	240						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTATAACCAAGTTCTGTTCT	0.358000														17			10		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586159	101586159	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101586159T>C	uc003yjr.3	-	13	1408	c.1257A>G	c.(1255-1257)agA>agG	p.R419R	SNX31_uc011lha.2_Silent_p.R214R|SNX31_uc011lhb.2_Silent_p.R320R	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	419					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCTTGCTTTTTCTTGATAGAA	0.328000														51			7		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46539136	46539136	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:46539136G>A	uc004dgu.1	-	2	588	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	SLC9A7_uc004dgv.1_Missense_Mutation_p.H194Y	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	194					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TATCCAGCATGAAAAATAATT	0.294000														0			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561117	41561117	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41561117C>T	uc002yyq.1	-	11	2857	c.2405G>A	c.(2404-2406)gGg>gAg	p.G802E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	802	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTTTCTGCCCCTGCGTGGC	0.493000														48			48		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304838	39304838	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39304838G>A	uc010amw.2	-	0		c.3571C>T			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		CTTTTCAGAGGAAGAAACCCT	0.483000														14			6		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487821	121487821	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:121487821G>A	uc003ksv.3	+	1	512	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ZNF474_uc021ycy.1_Missense_Mutation_p.E46K	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	46						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCCAGAAACAGAGAGTGTTAA	0.393000														48			31		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109542	125109542	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:125109542C>T	uc003yqw.3	+	35	4932	c.4726C>T	c.(4726-4728)Ccc>Tcc	p.P1576S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1576						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGACATGTTTCCCAAGGATAT	0.507000														48			31		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140810472	140810472	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140810472C>T	uc003lkt.2	+	0	315	c.146C>T	c.(145-147)tCc>tTc	p.S49F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.S49F	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	49	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGACATCTCCAGGGACCTG	0.647000														45			50		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66856749	66856749	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:66856749G>A	uc001stk.3	-	8	1238	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	GRIP1_uc010sta.1_Missense_Mutation_p.L277F|GRIP1_uc001stj.3_Missense_Mutation_p.L63F|GRIP1_uc001stm.3_Missense_Mutation_p.L333F|GRIP1_uc001stl.1_Missense_Mutation_p.L277F	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	333	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGATGGGGAAGGATCTCAAGC	0.562000														0			15		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867830	45867830	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45867830T>G	uc010zxy.1	-	14	2440	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	ZMYND8_uc010ghq.1_Missense_Mutation_p.E436D|ZMYND8_uc010ghr.1_Missense_Mutation_p.E734D|ZMYND8_uc002xst.1_Missense_Mutation_p.E687D|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.E687D|ZMYND8_uc002xsw.1_Missense_Mutation_p.E511D|ZMYND8_uc002xsx.1_Missense_Mutation_p.E511D|ZMYND8_uc002xsy.1_Missense_Mutation_p.E734D|ZMYND8_uc002xsz.1_Missense_Mutation_p.E696D|ZMYND8_uc002xta.1_Missense_Mutation_p.E759D|ZMYND8_uc002xtb.1_Missense_Mutation_p.E779D|ZMYND8_uc002xss.2_Missense_Mutation_p.E759D|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.E779D|ZMYND8_uc002xtd.1_Missense_Mutation_p.E754D|ZMYND8_uc002xte.1_Missense_Mutation_p.E759D|ZMYND8_uc010zya.1_Missense_Mutation_p.E759D|ZMYND8_uc002xtf.1_Missense_Mutation_p.E779D|ZMYND8_uc002xtg.3_Missense_Mutation_p.E753D|ZMYND8_uc010ghs.2_Missense_Mutation_p.E753D|ZMYND8_uc002xsr.1_5'UTR	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	759							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCACCGGTGTTTCCGGGGGAG	0.602000														158			46		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555074	44555074	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:44555074T>C	uc010xdb.2	-	0	1376	c.1140A>G	c.(1138-1140)aaA>aaG	p.K380K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	380	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGGCATTGTCTTTCTCTGTGC	0.572000														864			12		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34611591	34611591	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34611591G>A	uc002xer.1	+	10	1481	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	446										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					ATGAGCCTGGGAAATGAGTTG	0.438000														53			34		0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573317	20573317	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:20573317T>G	uc002kua.3	+	10	1650	c.1527T>G	c.(1525-1527)agT>agG	p.S509R	RBBP8_uc002ktw.3_Missense_Mutation_p.S509R|RBBP8_uc002kty.3_Missense_Mutation_p.S509R|RBBP8_uc002ktz.3_Missense_Mutation_p.S509R|RBBP8_uc002ktx.1_Missense_Mutation_p.S509R	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	509					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GCCAAGGAAGTGAGACTTCTA	0.418000								Homologous recombination						59			15		0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798797	57798797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57798797G>A	uc010rjz.2	+	0	373	c.373G>A	c.(373-375)Gat>Aat	p.D125N	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CATGGCCTATGATCGTTATGT	0.517000														42			63		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151176498	151176498	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151176498C>T	uc011bod.2	-	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTACCTTCATCCTGAAAAAAC	0.537000														32			10		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102785	22102785	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22102785A>G	uc010tmc.2	-	0	214	c.214T>C	c.(214-216)Tca>Cca	p.S72P		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGGAATGAGAGCACTCCC	0.532000														31			9		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003403	34003403	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34003403G>A	uc002yqh.2	-	31	4741	c.4741C>T	c.(4741-4743)Cct>Tct	p.P1581S	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1495S|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Missense_Mutation_p.P167S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1542							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGAGGGACAGGAGGTGGAGGA	0.507000														50			44		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102946616	102946616	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:102946616G>A	uc003hvy.4	+	8	1818	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	BANK1_uc003hvx.4_Missense_Mutation_p.R500Q|BANK1_uc010ill.3_Missense_Mutation_p.R382Q|BANK1_uc003hvz.4_Missense_Mutation_p.R485Q	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	515					B cell activation			p.R515*(1)|p.P514L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCCCCGCCGCGACCTGTAGCT	0.438000														24			17		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053152	192053152	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:192053152A>C	uc003fsx.3	-	2	1238	c.412T>G	c.(412-414)Tca>Gca	p.S138A	FGF12_uc003fsy.3_Missense_Mutation_p.S76A	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	138					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.S137N(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACTTACTGAACTGTAGAGA	0.443000														88			14		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740162	110740162	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110740162G>A	uc009wfq.3	+	10	2217	c.1756G>A	c.(1756-1758)Gcc>Acc	p.A586T		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	586					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTCACCACAGCCAGCATCAT	0.602000											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			30		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527983	150527983	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150527983A>G	uc009wlw.3	+	7	1540	c.1382A>G	c.(1381-1383)cAg>cGg	p.Q461R	ADAMTSL4_uc001euw.3_Missense_Mutation_p.Q438R|ADAMTSL4_uc001eux.3_Missense_Mutation_p.Q438R|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.Q461R|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	438					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.G460D(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAAAAGGTCCAGGATGGGACC	0.587000														44			11		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72128980	72128980	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:72128980A>G	uc003xyu.3	-	13	1947	c.1307T>C	c.(1306-1308)tTc>tCc	p.F436S	EYA1_uc003xyt.4_Missense_Mutation_p.F403S|EYA1_uc003xyr.4_Missense_Mutation_p.F401S|EYA1_uc010lzf.3_Missense_Mutation_p.F363S|EYA1_uc003xys.4_Missense_Mutation_p.F436S|EYA1_uc011lfe.2_Missense_Mutation_p.F430S|EYA1_uc003xyv.3_Missense_Mutation_p.F314S	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	436					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTGTAGCGGAAGGCCAACTT	0.468000														59			20		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684939	75684939	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75684939G>A	uc002bai.3	-	14	2754	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	SIN3A_uc002baj.3_Missense_Mutation_p.S832L|SIN3A_uc010uml.2_Missense_Mutation_p.S832L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	832	Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCCACATCTGAGAGATCACC	0.448000														3			63		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14482769	14482769	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:14482769C>T	uc003jff.3	+	45	6550	c.6544C>T	c.(6544-6546)Cgc>Tgc	p.R2182C	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.R1831C	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2182	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTTCTGCCTCGCTGCAGAGA	0.483000														84			15		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415677	19415677	+	RNA	SNP	A	T	T	rs142136612	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:19415677A>T	uc010tcj.1	-	0		c.30433T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AACACACTGCAATAGGCTTAC	0.388000														56			4		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567379	5567379	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5567379A>G	uc001iie.1	+	0	456	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	111	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						ACACGTCATGACCCGGCTGGG	0.647000														62			4		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560632	30560632	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30560632G>A	uc003xih.2	-	4	752	c.618C>T	c.(616-618)acC>acT	p.T206T	GSR_uc022ato.1_Silent_p.T206T|GSR_uc022atp.1_Silent_p.T206T|GSR_uc022atq.1_Silent_p.T206T	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	206					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TCTCATGAGGGGTGGAGGGCA	0.532000														88			60		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722465	150722465	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150722465G>A	uc003lty.3	-	3	554	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.H142Y|SLC36A2_uc011dct.1_Missense_Mutation_p.H142Y	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	142					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGAGCGTGATTCTGGAGC	0.527000														17			14		0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21875419	21875419	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:21875419A>C	uc011mjp.2	+	0	1315	c.817A>C	c.(817-819)Aaa>Caa	p.K273Q	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	273	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGCCATGAGAAAACATCTCCA	0.512000														64			71		0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184025197	184025197	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184025197T>G	uc003fnn.1	+	16	2120	c.2087T>G	c.(2086-2088)cTc>cGc	p.L696R	PSMD2_uc011brj.1_Missense_Mutation_p.L537R|PSMD2_uc011brk.1_Missense_Mutation_p.L566R	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	696					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCACTGGCCCTCATCTCTGTT	0.448000														130			15		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121328193	121328193	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:121328193G>A	uc003yox.3	+	39	4881	c.4616G>A	c.(4615-4617)gGa>gAa	p.G1539E	COL14A1_uc003yoz.3_Missense_Mutation_p.G504E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1539	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1538L(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTATCCCAGGAGGCGTTGGT	0.507000														20			21		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176462	57176462	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57176462T>C	uc010ygn.2	-	1	332	c.105A>G	c.(103-105)ccA>ccG	p.P35P		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTCTGGCTCTGGACAGCTTT	0.597000														96			13		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49071632	49071632	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49071632G>A	uc004dnb.3	-	28	3606	c.3544C>T	c.(3544-3546)Cgt>Tgt	p.R1182C	CACNA1F_uc010nip.3_Missense_Mutation_p.R1171C	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1182					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R1182C(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCCCACACACGATACTGATGC	0.562000														1			26		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485738	31485738	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31485738C>T	uc002ecd.2	+	5	515	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TGFB1I1_uc021tgx.1_Silent_p.L144L|TGFB1I1_uc002ece.2_Silent_p.L144L	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	161	Interaction with PTK2B.|Transcription activation (By similarity).				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCTGGATAGACTGATGGCCTC	0.562000														41			25		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954454	10954454	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10954454G>A	uc001qyv.3	-	0	773	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	239					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GAGAAGGAAGGAAATGACAGC	0.507000														26			19		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032951	16032951	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16032951G>A	uc002nbu.2	-	8	1047	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CYP4F11_uc010eab.1_Silent_p.L337L|CYP4F11_uc002nbt.2_Silent_p.L337L	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	337					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGACCCAGGAGAGACCACTGG	0.547000														63			15		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334911	7334911	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7334911G>A	uc001mfe.3	+	2	1020	c.783G>A	c.(781-783)aaG>aaA	p.K261K	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	261	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTATGTCAAGATCTATTTGC	0.408000														80			82		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164727139	164727139	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164727139G>A	uc003fei.3	-	34	4170	c.4107C>T	c.(4105-4107)tcC>tcT	p.S1369S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1369	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTCTGCTGTGGAAGTCCTGA	0.383000										HNSCC(35;0.089)				30			79		0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42967164	42967164	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42967164G>A	uc003bcr.3	+	9	788	c.686G>A	c.(685-687)tGt>tAt	p.C229Y	SERHL2_uc011apn.1_Missense_Mutation_p.C246Y|SERHL2_uc010gyz.3_Missense_Mutation_p.C165Y|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA.	229						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						AGGGAGCTGTGTGCGCATTCC	0.552000														54			10		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229654083	229654083	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:229654083A>C	uc001htp.4	-	12	2103	c.2060T>G	c.(2059-2061)gTt>gGt	p.V687G		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	687	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGGGCAATAACTAACACCGT	0.428000														37			21		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105521198	105521198	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105521198T>G	uc003yma.3	-	2	368	c.241A>C	c.(241-243)Agg>Cgg	p.R81R	LRP12_uc003ymb.3_Silent_p.R62R|LRP12_uc003ymc.4_Silent_p.R62R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	81	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTTTGCCCTTATGAACCAG	0.363000														73			22		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796742	1796742	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1796742A>G	uc002ltw.3	-	15	1955	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	ATP8B3_uc002ltv.3_Missense_Mutation_p.V527A|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	574					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACCATCACCGTGTGGCA	0.716000														64			7		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138413161	138413161	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:138413161G>A	uc002tva.1	+	20	3946	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACGTGTCGAGGATGCACTGTG	0.547000														13			3		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678420	100678420	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100678420A>G	uc003uxp.1	+	2	3776	c.3723A>G	c.(3721-3723)acA>acG	p.T1241T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1241	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACATCTCCCGTTG	0.522000														477			21		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936836	209936836	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209936836G>A	uc001hho.3	+	8	1027	c.607_splice	c.e8-1	p.E203_splice	TRAF3IP3_uc001hhm.2_Splice_Site_p.E203_splice|TRAF3IP3_uc001hhn.3_Splice_Site_p.E183_splice|TRAF3IP3_uc009xcr.3_Splice_Site_p.E203_splice	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	203						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CGCACCCCCAGGAGGCCCTAC	0.527000														30			21		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53754791	53754791	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53754791G>A	uc002qbg.1	-	2	164	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	ZNF677_uc002qbf.1_Nonsense_Mutation_p.Q5*|ZNF677_uc002qbh.3_Non-coding_Transcript	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACTTTTACCTGAGAAAGAGCC	0.373000														25			63		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512757	152512757	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152512757A>G	uc021vrb.1	-	46	6434	c.6405T>C	c.(6403-6405)acT>acC	p.T2135T	NEB_uc002txu.3_Silent_p.T2135T|NEB_uc021vrc.1_Silent_p.T2135T|NEB_uc010fnx.3_Silent_p.T2135T|NEB_uc021vrd.1_Silent_p.T2135T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2135					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTGTAGTTAGTGTTGGTGA	0.463000														226			26		0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197559098	197559098	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197559098C>T	uc011bul.1	+	7	1017	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	LRCH3_uc003fyj.1_Nonsense_Mutation_p.R338*|LRCH3_uc011bum.1_Nonsense_Mutation_p.R338*|LRCH3_uc011bun.1_Nonsense_Mutation_p.R212*|LRCH3_uc003fyk.2_5'UTR	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	338						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCTGCCTCTTCGAGTAGCAGA	0.408000														67			10		0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455633	21455633	+	RNA	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21455633T>C	uc003zpe.2	-	3		c.782A>G								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		CTCTCCCTTCTTGTGTCTAAA	0.498000														10			8		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627303	133627303	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133627303G>A	uc003ytk.3	-	7	1029	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	LRRC6_uc022bbp.1_Silent_p.L319L|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	319	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCAAGGTCCAGGATGATCTGC	0.308000														24			27		0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48424030	48424030	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48424030C>T	uc003gya.4	+	7	1826	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	561						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TATTACAGATCCTTGCCAGCT	0.358000														5			9		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876302	18876302	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18876302C>T	uc021qvx.1	-	3	501	c.310G>A	c.(310-312)Gag>Aag	p.E104K	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	104					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTACTCATCTCAGCTGCATAT	0.323000														4			10		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907225	7907225	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7907225C>T	uc002gjt.2	+	2	851	c.777C>T	c.(775-777)ctC>ctT	p.L259L		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	259					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGCGCTACCTCCTGGAGGCCG	0.687000														64			19		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129654	149129654	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149129654T>G	uc003wfv.3	-	5	1872	c.1709A>C	c.(1708-1710)aAg>aCg	p.K570T		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGCCCCTCCTTGATGTGGTT	0.647000														32			4		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7620634	7620634	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7620634C>T	uc010xjq.2	+	25	3348	c.3108C>T	c.(3106-3108)gcC>gcT	p.A1036A	PNPLA6_uc002mgq.2_Silent_p.A988A|PNPLA6_uc010xjp.2_Silent_p.A961A|PNPLA6_uc002mgr.2_Silent_p.A988A|PNPLA6_uc002mgs.3_Silent_p.A1026A	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1027	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCAGCGGGCCCGGGAGTGGG	0.662000														48			37		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069032	82069032	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:82069032G>A	uc002fgv.3	+	0	175	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	1					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CACTGAGAATGAGCACTTTCT	0.527000														1			23		0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70710827	70710827	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70710827A>G	uc002ezj.3	-	9	1047	c.787T>C	c.(787-789)Tca>Cca	p.S263P	MTSS1L_uc002ezk.1_Missense_Mutation_p.S180P	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	263	Ser-rich.				filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CTGGGTGATGAGGGTGGGGTC	0.622000														19			8		0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086157	16086157	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:16086157G>A	uc002rci.3	+	2	1633	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	MYCN_uc010yjr.2_Missense_Mutation_p.E445K	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	445	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCTGGAAAAGGAAAAATTGCA	0.493000			A		neuroblastoma									122			37		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034514	128034514	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128034514G>A	uc011kol.1	-	11	1541	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	IMPDH1_uc011kom.1_Missense_Mutation_p.L474F|IMPDH1_uc003vmt.2_Missense_Mutation_p.L454F|IMPDH1_uc003vmu.2_Missense_Mutation_p.L564F|IMPDH1_uc003vmx.2_Missense_Mutation_p.L487F|IMPDH1_uc003vmy.2_Missense_Mutation_p.L495F|IMPDH1_uc003vmw.2_Missense_Mutation_p.L554F|IMPDH1_uc011kon.1_Missense_Mutation_p.L531F|IMPDH1_uc003vmv.2_Missense_Mutation_p.L528F|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	479					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACTCACCGAAGGACAGACAGG	0.587000														34			25		0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211013	80211013	+	Missense_Mutation	SNP	G	C	C	rs145619785	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:80211013G>C	uc002kej.3	-	3	781	c.444C>G	c.(442-444)atC>atG	p.I148M	CSNK1D_uc002kei.3_Missense_Mutation_p.I148M|CSNK1D_uc010wvj.2_Intron|CSNK1D_uc010dil.3_5'Flank|CSNK1D_uc002keh.3_Missense_Mutation_p.I13M|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	148	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GCCCGAAGTCGATGATGTACA	0.562000														58			83		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45270718	45270718	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:45270718C>T	uc001zuk.3	+	6	569	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	185										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TGAAGAAATTCCTTGGGGAGC	0.299000														1			18		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47220595	47220595	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:47220595C>T	uc010fbb.3	+	5	1139	c.771C>T	c.(769-771)atC>atT	p.I257I	TTC7A_uc002rvm.3_Silent_p.I223I|TTC7A_uc002rvn.1_Silent_p.I138I|TTC7A_uc002rvo.3_Silent_p.I257I|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.I138I|TTC7A_uc002rvq.3_5'UTR|TTC7A_uc002rvr.3_5'Flank	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	257							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCAGGAACATCGTGAAGGGCA	0.562000														31			51		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449581	155449581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155449581G>A	uc009wqq.3	-	2	3560	c.3080C>T	c.(3079-3081)gCc>gTc	p.A1027V	ASH1L_uc001fkt.3_Missense_Mutation_p.A1027V|ASH1L_uc009wqr.1_Missense_Mutation_p.A1027V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1027					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCCAAATGTGGCAGCAAGACT	0.363000														26			28		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99478277	99478277	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:99478277C>T	uc002bul.3	+	15	3231	c.3181C>T	c.(3181-3183)Cat>Tat	p.H1061Y	IGF1R_uc010bon.3_Missense_Mutation_p.H1060Y|IGF1R_uc010boo.1_Intron	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1061	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAATTGTCACCATGTGGTAAG	0.483000														23			11		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17065576	17065576	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:17065576T>G	uc004cxv.1	+	5	1049	c.878T>G	c.(877-879)cTt>cGt	p.L293R	REPS2_uc004cxw.1_Missense_Mutation_p.L292R|REPS2_uc011miw.1_Missense_Mutation_p.L152R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	293	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TTCCGATCCCTTCAGCCAGAC	0.493000														52			39		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602813	5602813	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5602813C>T	uc010qzi.2	+	0	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTACTGTTTCCTACATCCAC	0.502000														97			85		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977644	6977644	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6977644G>A	uc001mey.3	+	6	2024	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.R241Q|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCTCTTATTCGACACCAAATG	0.368000														49			30		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675607	100675607	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100675607A>T	uc003uxp.1	+	2	963	c.910A>T	c.(910-912)Att>Ttt	p.I304F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	304	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCACCAACATTCCTGTGAT	0.488000														156			134		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21882168	21882168	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:21882168C>T	uc003svc.3	+	66	10750	c.10719C>T	c.(10717-10719)atC>atT	p.I3573I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3573	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAGGTATATCAGGATTGGAG	0.388000									Kartagener syndrome					27			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091810	9091810	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9091810A>C	uc002mkp.3	-	0	209	c.5T>G	c.(4-6)cTg>cGg	p.L2R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGGTTTCAGCATGGACAG	0.537000														24			6		0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035349	30035349	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:30035349C>T	uc002dvr.2	+	2	260	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Silent_p.L107L	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	107						integral to membrane				breast(3)|lung(3)	6						CCATCACATCCTGGTGGGCTT	0.587000														78			32		0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64814155	64814155	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:64814155C>T	uc001ssb.3	+	7	1203	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	XPOT_uc009zqm.2_Missense_Mutation_p.H143Y	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	233	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCTGCTAGGTCATATGTCAAT	0.308000														19			11		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162873617	162873617	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:162873617C>T	uc002ubz.3	-	17	2029	c.1468_splice	c.e17+1	p.G490_splice	DPP4_uc010fpb.3_Splice_Site_p.G166_splice	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	490					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TGAGAAAATACCTTTATCATT	0.353000														4			7		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170609	36170609	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:36170609G>A	uc003zzb.4	+	0	1221	c.1110G>A	c.(1108-1110)atG>atA	p.M370I		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	370					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCACACCATGGTGACCTGTG	0.562000														46			33		0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2687680	2687680	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2687680C>T	uc003smp.3	+	4	901	c.714C>T	c.(712-714)atC>atT	p.I238I	TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Silent_p.I67I	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	238						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCAAGGGCATCCTGGTGGGGT	0.662000														42			26		0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254976	155254976	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:155254976C>T	uc022cip.1	+	6	936	c.732C>T	c.(730-732)atC>atT	p.I244I						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;																		CAGACTCCATCCCTCCTGTGC	0.642000														13			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165973	3165973	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3165973C>T	uc022aqr.1	-	23	4074	c.3684G>A	c.(3682-3684)agG>agA	p.R1228R	CSMD1_uc011kwj.2_Silent_p.R621R|CSMD1_uc003wqe.3_Silent_p.R385R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1229	Sushi 7.					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)		CATCACGGATCCTATAGCCGT	0.507000														15			16		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25023890	25023890	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25023890A>C	uc001upl.3	-	24	3186	c.3080T>G	c.(3079-3081)tTt>tGt	p.F1027C		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1027	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding	p.F1027L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTTTGCATTAAAATATTCAAA	0.333000														56			8		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11755269	11755269	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:11755269A>C	uc002rbk.1	+	19	3475	c.3175A>C	c.(3175-3177)Aca>Cca	p.T1059P	GREB1_uc002rbp.1_Missense_Mutation_p.T57P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1059						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTGGTGAGAACAGCCTTGGA	0.537000														36			8		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825741	76825741	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76825741T>A	uc003ugb.3	-	1	1215	c.1175A>T	c.(1174-1176)aAa>aTa	p.K392I	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	392	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTGATAATATTTGCCATTTAA	0.463000														71			6		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491735	30491735	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:30491735A>G	uc003tav.3	-	5	1821	c.1298T>C	c.(1297-1299)cTg>cCg	p.L433P		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	433	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CATCCTGTTCAGATGGACCTC	0.632000														74			4		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200965480	200965480	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200965480C>T	uc001gvs.2	-	14	2438	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	KIF21B_uc009wzl.2_Silent_p.K707K|KIF21B_uc001gvr.2_Silent_p.K707K|KIF21B_uc010ppn.2_Silent_p.K707K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	707					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						CATAGTCTGCCTTGATCTTGT	0.582000														163			46		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876912	21876912	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21876912C>T	uc001war.2	-	10	2502	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	CHD8_uc001was.2_Missense_Mutation_p.E534K|CHD8_uc001wav.1_5'UTR	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	813					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACTGATATTCCCGTAGCTGG	0.383000														5			6		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478863	142478863	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142478863C>T	uc011ksq.2	+	0	107	c.24C>T	c.(22-24)gcC>gcT	p.A8A	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_5'Flank					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGATCCTTGCCTTTGTGGGAG	0.572000														1			23		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95480868	95480868	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95480868C>T	uc010fhq.2	-	1	1512	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	794										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AAGAGACTTTCTTTTAAATGA	0.313000														32			9		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411960	43411960	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43411960C>T	uc002ovj.1	-	3	852	c.753G>A	c.(751-753)agG>agA	p.R251R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.R91R|PSG4_uc002ovg.1_Silent_p.R251R	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	252	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTTCTTCTCCCTGGGGTTTA	0.512000														219			58		0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900064	34900064	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:34900064A>G	uc002nvj.3	+	4	370	c.337_splice	c.e4-2	p.K113_splice		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	113						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTATTTTTCCAGAAACAGGGA	0.537000														85			14		0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73027964	73027964	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:73027964T>C	uc004aht.3	-	0	1610	c.316A>G	c.(316-318)Agt>Ggt	p.S106G		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.	106	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TGGGAAGGACTCGACCCAGAT	0.637000														84			17		0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18994926	18994926	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18994926A>T	uc002nki.1	-	2	632	c.560T>A	c.(559-561)cTc>cAc	p.L187H	CERS1_uc002nkj.3_Missense_Mutation_p.L187H|CERS1_uc010ebx.3_Missense_Mutation_p.L89H	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	187	TLC.				ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						GATGAGGATGAGAGTGACCAC	0.612000														23			3		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104245089	104245089	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104245089T>G	uc001yof.1	-	3	630	c.347A>C	c.(346-348)gAa>gCa	p.E116A	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	116					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TACCCCATTTTCAGTACGTTT	0.403000														37			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416350	105416350	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105416350T>C	uc010axc.1	-	6	5558	c.5438A>G	c.(5437-5439)gAc>gGc	p.D1813G	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D1713G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1813						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCTTGTCGGCCAGGGA	0.622000														393			24		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143058	41143058	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41143058C>T	uc003jmk.2	-	17	2884	c.2674G>A	c.(2674-2676)Gga>Aga	p.G892R	C6_uc003jml.1_Missense_Mutation_p.G892R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	892	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTTGGTTTCCACCCTTGAAG	0.443000														68			12		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290646	23290646	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23290646G>A	uc003xdl.3	-	12	1916	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.3_Silent_p.F540F	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	548					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GACTGGCTCGGAAGGCCTCCT	0.587000														23			15		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346465	70346465	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70346465C>T	uc003hek.4	-	5	1521	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	UGT2B4_uc011cap.2_Missense_Mutation_p.D356N|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	492					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGTCACATCCAAAGAGTGG	0.488000														75			39		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544397	4544397	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4544397C>T	uc010dud.2	-	16	2145	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	628					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGCTCCCGCCGCTCACG	0.731000														10			3		0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552340	58552340	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:58552340A>G	uc003dko.3	-	4	1119	c.503T>C	c.(502-504)cTg>cCg	p.L168P	FAM107A_uc003dkm.3_Missense_Mutation_p.L137P|FAM107A_uc003dkn.3_Missense_Mutation_p.L137P|FAM107A_uc010hnm.3_Missense_Mutation_p.L165P|FAM107A_uc003dkp.1_3'UTR	NM_007177	NP_009108	O95990	F107A_HUMAN	Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA.	137					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TTCGCTGGTCAGTGTGGCAAT	0.587000														109			4		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269756	173269756	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:173269756C>T	uc003isv.3	+	4	1205	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	157	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L156L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GACTTCACTCCTGCGGACCAT	0.428000														59			20		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397034	3397035	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3397034_3397035CC>TT	uc001akg.4	+	14	2261_2262	c.2013_2014CC>TT	c.(2011-2016)ctccgg>ctTTgg	p.R672W	ARHGEF16_uc001aki.3_Missense_Mutation_p.R384W|ARHGEF16_uc001akj.3_Missense_Mutation_p.R384W|ARHGEF16_uc010nzh.2_Missense_Mutation_p.R376W	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	672	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCGAGAGGCTCCGGGACGGAGA	0.673000														56			42		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177300	223177300	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:223177300A>G	uc001hnu.2	+	9	2887	c.2561A>G	c.(2560-2562)gAg>gGg	p.E854G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	854					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCTTCATTGAGACATTCAAA	0.473000														64			13		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629151	80629151	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:80629151T>G	uc003pja.4	-	4	974	c.655A>C	c.(655-657)Act>Cct	p.T219P	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	219					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGCAACATAGTCAGGTATCGT	0.333000														26			3		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762012	130762012	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:130762012G>A	uc003qcb.3	+	1	2823	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	TMEM200A_uc003qca.3_Missense_Mutation_p.E149K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E149K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E149K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E149K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	149						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CATTCTTCATGAAAACCGTGA	0.393000														3			40		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649667	142649667	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142649667C>G	uc003wcb.3	-	9	1342	c.1132G>C	c.(1132-1134)Gac>Cac	p.D378H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	378					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATTGACTGTCCAGGGCTGGA	0.542000														39			8		0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50687198	50687198	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:50687198A>C	uc003jor.3	+	4	1404	c.856A>C	c.(856-858)Agt>Cgt	p.S286R		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	286	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGAAGTACAAAGTTACCAGCC	0.517000														52			6		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921347	24921347	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:24921347C>T	uc001ywo.3	+	0	807	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	111					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTGGACACCCCAGTTCCGTAA	0.672000														48			16		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764516	77764516	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:77764516G>A	uc003ugx.3	-	16	3107	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	MAGI2_uc003ugy.3_Silent_p.P937P|MAGI2_uc010ldx.1_Silent_p.P544P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	951	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CGATTTTATGGGGCACAGCTA	0.453000														38			30		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291302	61291302	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61291302A>C	uc001nrv.3	-	6	956	c.904T>G	c.(904-906)Tca>Gca	p.S302A	SYT7_uc009ynr.3_Missense_Mutation_p.S377A	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	302	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCGTACCTGATGTGCCCCCG	0.592000														318			73		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946967	40946967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40946967C>T	uc003gvn.3	-	6	1589	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.R319Q|APBB2_uc003gvm.3_Missense_Mutation_p.R319Q|APBB2_uc011byt.1_Missense_Mutation_p.R302Q	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.R319L(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGACGGGCCGTTCCCACTG	0.532000														57			23		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847625	22847625	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22847625G>A	uc002nqw.3	+	3	1398	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGAGAATTCATACT	0.378000														21			3		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515920	41515920	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41515920G>A	uc002opr.1	+	5	851	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	282					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCACACAGTGAATTCAGCCA	0.577000														32			28		0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125255479	125255479	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:125255479T>G	uc001qbu.3	+	5	574	c.260T>G	c.(259-261)tTt>tGt	p.F87C	PKNOX2_uc010saz.2_Missense_Mutation_p.F58C|PKNOX2_uc010sba.2_Missense_Mutation_p.F58C|PKNOX2_uc010sbb.2_Missense_Mutation_p.F23C	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	87						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ACGCTGCTGTTTGAGAAATGT	0.567000														44			12		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43412681	43412681	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43412681T>G	uc021wjo.1	-	0	1524	c.1524A>C	c.(1522-1524)gaA>gaC	p.E508D	ZNF295_uc002yzz.4_Missense_Mutation_p.E508D|ZNF295_uc002zab.4_Missense_Mutation_p.E508D|ZNF295_uc002yzy.4_Missense_Mutation_p.E508D|ZNF295_uc002zaa.4_Missense_Mutation_p.E508D|ZNF295_uc010gov.1_Missense_Mutation_p.E508D|ZNF295_uc002zac.2_Missense_Mutation_p.E508D	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	508					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CAAAATTATCTTCTGACACAG	0.458000														76			21		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92470752	92470752	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92470752G>A	uc001dol.4	+	18	3089	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	BRDT_uc010osz.2_Missense_Mutation_p.E895K|BRDT_uc001dok.4_Missense_Mutation_p.E891K|BRDT_uc009wdf.3_Missense_Mutation_p.E818K|BRDT_uc010otb.2_Missense_Mutation_p.E845K|BRDT_uc010ota.2_Missense_Mutation_p.E845K|BRDT_uc001dom.4_Missense_Mutation_p.E891K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	891					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)		AGAGCAGAAAGAACATCAGCA	0.388000														60			47		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418876	20418876	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:20418876A>C	uc003suu.3	+	3	1296	c.591A>C	c.(589-591)tcA>tcC	p.S197S	ITGB8_uc011jyh.2_Silent_p.S62S|ITGB8_uc003sut.3_Silent_p.S197S	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	197	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAACAGTTTCACCATACATTA	0.343000														22			10		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959621	102959621	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102959621G>A	uc002tbu.1	+	6	1079	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	IL1RL1_uc010ywa.2_Missense_Mutation_p.E153K|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.E270K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	270	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCAACAAGAGGAAGGGCAAAA	0.418000														67			27		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067851	3067851	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:3067851C>T	uc003bpc.3	+	14	1891	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	CNTN4_uc003bpb.1_Missense_Mutation_p.P190S|CNTN4_uc021wsg.1_Missense_Mutation_p.P518S|CNTN4_uc003bpd.1_Missense_Mutation_p.P518S|CNTN4_uc003bpe.3_Missense_Mutation_p.P190S|CNTN4_uc003bpf.3_Missense_Mutation_p.P190S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	518	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATTGTTTTACCGTGCCAGGT	0.423000														11			20		0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179354	161179354	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161179354C>T	uc001fyv.3	+	5	1044	c.596C>T	c.(595-597)cCt>cTt	p.P199L	NDUFS2_uc010pki.2_Missense_Mutation_p.P101L|NDUFS2_uc001fyw.3_Missense_Mutation_p.P199L|NDUFS2_uc010pkj.2_Missense_Mutation_p.P148L	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GCCATGACCCCTTTCTTCTGG	0.483000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			6		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69339850	69339850	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:69339850C>G	uc002ars.2	+	11	1831	c.1790C>G	c.(1789-1791)gCt>gGt	p.A597G	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.A551G|NOX5_uc002arp.2_Missense_Mutation_p.A579G|NOX5_uc010bid.2_Missense_Mutation_p.A562G|NOX5_uc010bie.2_Missense_Mutation_p.A397G|NOX5_uc002arr.2_Missense_Mutation_p.A569G|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	597					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ACCCCCTTTGCTTCCATTCTG	0.607000														2			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763093	92763093	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92763093G>A	uc003umh.1	-	4	3408	c.2192C>T	c.(2191-2193)cCa>cTa	p.P731L	SAMD9L_uc003umj.1_Missense_Mutation_p.P731L|SAMD9L_uc003umi.1_Missense_Mutation_p.P731L|SAMD9L_uc010lfb.1_Missense_Mutation_p.P731L|SAMD9L_uc003umk.1_Missense_Mutation_p.P731L|SAMD9L_uc010lfc.1_Missense_Mutation_p.P731L|SAMD9L_uc010lfd.1_Missense_Mutation_p.P731L|SAMD9L_uc022ahh.1_Missense_Mutation_p.P731L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	731										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCAAATATTGGTTTAGGAGA	0.353000														52			48		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940058	113940058	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113940058G>A	uc002tjc.3	+	1	208	c.25G>A	c.(25-27)Gac>Aac	p.D9N	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.D8N|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	9					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACTCCCTGACCACCCCCA	0.592000														24			21		0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1430277	1430277	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1430277A>G	uc002lsn.3	+	9	976	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	DAZAP1_uc002lsm.3_Missense_Mutation_p.T263A	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	263	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCGTTCACCTCCTACAT	0.657000														21			6		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514226	157514226	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157514226G>A	uc009wsm.3	-	4	828	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	FCRL5_uc001fqu.3_Missense_Mutation_p.L224F|FCRL5_uc010phv.1_Missense_Mutation_p.L224F|FCRL5_uc010phw.1_Missense_Mutation_p.L139F|FCRL5_uc001fqv.1_Missense_Mutation_p.L224F|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	224	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGGAACCGGAGCGGGACATCT	0.562000														81			65		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403377	124403377	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124403377C>T	uc001uft.4	+	63	11058	c.11033C>T	c.(11032-11034)gCc>gTc	p.A3678V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3678					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)		TCCCTGATTGCCTTCTTAGAG	0.562000														16			3		0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800309	32800309	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32800309T>C	uc001bvd.3	-	1	677	c.477A>G	c.(475-477)gcA>gcG	p.A159A		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	159						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CACTAGCCTCTGCCCCCTTGG	0.682000														87			6		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527985	155527985	+	Missense_Mutation	SNP	T	G	G	rs121913090	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155527985T>G	uc003ioj.3	-	7	1142	c.1001A>C	c.(1000-1002)aAt>aCt	p.N334T	FGG_uc003iog.3_Missense_Mutation_p.N334T	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	334	Fibrinogen C-terminal.		N -> I (in Baltimore-3; impaired polymerization).|N -> K (in Kyoto-1; causes accelerated cleavage by plasmin).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCATGCCATTATGGGATGT	0.468000														85			9		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170871864	170871864	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170871864A>C	uc010zdi.2	+	29	4441	c.4441A>C	c.(4441-4443)Agg>Cgg	p.R1481R	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.R302R|UBR3_uc002uft.4_Silent_p.R338R|UBR3_uc010zdj.2_Silent_p.R143R|UBR3_uc002ufu.4_5'UTR	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1481					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AGCTGGCAAAAGGTCTTGTTT	0.328000														33			4		0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447811	38447811	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38447811A>C	uc002huj.1	+	3	761	c.551A>C	c.(550-552)aAt>aCt	p.N184T		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	184					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GTCATCAGGAATTTCTTGAGG	0.517000														64			12		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065473	35065473	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35065473C>T	uc003jjm.3	-	9	2146	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.E428E|PRLR_uc021xxl.1_Missense_Mutation_p.E339K	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	529					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGCCGCTGTTCTCTCTCTGTT	0.498000														65			15		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109954280	109954280	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:109954280G>A	uc003ptn.2	-	11	1177	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	AKD1_uc003ptr.4_Missense_Mutation_p.S367L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	367					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TTCTTCTGATGAAAGACAGTA	0.338000														5			16		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36853083	36853083	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36853083G>A	uc010xtd.2	-	1	146	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	ZFP14_uc010eex.2_Silent_p.L23L	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GCAGGATCCAGGAATTCCCAT	0.383000														33			26		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73995191	73995191	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:73995191C>T	uc002avv.1	+	3	731	c.497C>T	c.(496-498)tCc>tTc	p.S166F	CD276_uc010bjd.1_Missense_Mutation_p.S20F|CD276_uc002avu.1_Missense_Mutation_p.S166F|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.S112F	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	166	Ig-like C2-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ATCACGTGCTCCAGCTACCAG	0.647000														3			33		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66299191	66299191	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66299191A>C	uc001oii.1	+	15	1862	c.1784A>C	c.(1783-1785)aAg>aCg	p.K595T	BBS1_uc001oil.1_Missense_Mutation_p.K429T|BBS1_uc010rpg.1_Missense_Mutation_p.K461T|BBS1_uc001oij.1_Missense_Mutation_p.K558T|BBS1_uc001oik.1_Missense_Mutation_p.K482T|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.K226T	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	558					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTCAGTAACAAGGGCATCTCA	0.552000									Bardet-Biedl syndrome					140			38		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414193	22414193	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22414193C>T	uc001yuf.3	+	0	732	c.492C>T	c.(490-492)atC>atT	p.I164I	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CCACCCATATCATTGTTATAT	0.488000														72			31		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438057	58438057	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58438057G>A	uc002qqs.1	-	3	1784	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.R413C	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGATGAACACGAAACCCAGAG	0.458000														158			68		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111970219	111970219	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111970219A>C	uc003vge.2	+	6	878	c.749A>C	c.(748-750)aAg>aCg	p.K250T	ZNF277_uc003vgd.3_Missense_Mutation_p.K250T|ZNF277_uc003vgf.2_Missense_Mutation_p.K172T	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	250						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAGCATCGTAAGATTAATCCT	0.328000														23			9		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52580383	52580383	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:52580383G>A	uc001jjj.3	-	7	984	c.796C>T	c.(796-798)Cga>Tga	p.R266*	A1CF_uc010qho.2_Nonsense_Mutation_p.R274*|A1CF_uc010qhn.2_Nonsense_Mutation_p.R274*|A1CF_uc009xov.3_Nonsense_Mutation_p.R266*|A1CF_uc001jji.3_Nonsense_Mutation_p.R266*|A1CF_uc001jjh.3_Nonsense_Mutation_p.R274*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	266	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.R266*(4)|p.R274*(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCATAGTCTCGAATTTTCTTC	0.378000														3			11		0	0	1	0	0
NPFF	8620	broad.mit.edu	37	12	53900664	53900664	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53900664T>C	uc001sdw.1	-	2	402	c.238A>G	c.(238-240)Acc>Gcc	p.T80A		NM_003717	NP_003708	O15130	NPFF_HUMAN	Homo sapiens neuropeptide FF-amide peptide precursor (NPFF), mRNA.	80					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GATCCCTGGGTATTTCTGCCA	0.572000														66			31		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117626729	117626729	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:117626729A>G	uc001egy.3	+	10	2013	c.1993A>G	c.(1993-1995)Aac>Gac	p.N665D		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	665	Helicase ATP-binding.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAAACGGGTGAACAGCAACAA	0.493000														64			12		0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1976462	1976462	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1976462G>A	uc003slh.1	-	16	1934	c.1668C>T	c.(1666-1668)cgC>cgT	p.R556R	MAD1L1_uc003sle.1_Silent_p.R285R|MAD1L1_uc003slf.1_Silent_p.R556R|MAD1L1_uc003slg.1_Silent_p.R556R|MAD1L1_uc010ksh.1_Silent_p.R556R|MAD1L1_uc003sli.1_Silent_p.R464R|MAD1L1_uc010ksi.1_Silent_p.R509R|MAD1L1_uc010ksj.3_Silent_p.R556R|MAD1L1_uc003sld.1_Silent_p.R12R	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	556			R -> C (in a prostate cancer cell line; somatic mutation).|R -> H (in one individual with lung cancer).		cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.R556H(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCTCGCGCAGGCGCTGCCTGG	0.662000														13			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725195	181725195	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181725195C>T	uc009wxt.3	+	28	4288	c.4093C>T	c.(4093-4095)Ctc>Ttc	p.L1365F	CACNA1E_uc001gow.3_Missense_Mutation_p.L1365F|CACNA1E_uc009wxs.3_Missense_Mutation_p.L1346F|CACNA1E_uc001gox.1_Missense_Mutation_p.L591F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1365					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCTGACCCTCTTCACCGT	0.517000														19			18		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259811	44259811	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44259811G>A	uc003tkq.2	-	22	2061	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	CAMK2B_uc003tkp.2_Silent_p.I493I|CAMK2B_uc003tkr.2_Silent_p.I469I|CAMK2B_uc003tks.2_Silent_p.I468I|CAMK2B_uc003tku.2_Silent_p.I454I|CAMK2B_uc003tkv.2_Silent_p.I430I|CAMK2B_uc003tkt.2_Silent_p.I443I|CAMK2B_uc003tkw.2_Silent_p.I400I|CAMK2B_uc010kyc.2_Silent_p.I493I|CAMK2B_uc003tkn.2_Silent_p.I250I	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	617					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGATGTAAGCGATGCAGGCGG	0.657000														34			21		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47462061	47462061	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47462061C>T	uc003crh.1	-	11	1801	c.1546G>A	c.(1546-1548)Gca>Aca	p.A516T	SCAP_uc011baz.1_Missense_Mutation_p.A261T|SCAP_uc003crg.2_Missense_Mutation_p.A124T	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	516					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCGCTGTGCCAGGCGGGTG	0.652000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			13		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153910274	153910274	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153910274A>C	uc001fdd.1	-	13	2432	c.2031T>G	c.(2029-2031)agT>agG	p.S677R		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	677										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTGAGCTCACTTCCTGACA	0.532000														146			23		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47953434	47953434	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47953434C>T	uc003gxu.3	-	3	520	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.E58K|CNGA1_uc003gxv.1_Missense_Mutation_p.E58K	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	58					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGAGGGTTTTCATTCTCTGAT	0.438000														28			8		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48273742	48273742	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:48273742G>A	uc003toq.2	+	7	915	c.891G>A	c.(889-891)ctG>ctA	p.L297L	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	297					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCTGAACTGAAGGAGGTAC	0.522000														71			29		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924082	153924082	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153924082T>C	uc021pab.1	-	10	1217	c.1058A>G	c.(1057-1059)cAg>cGg	p.Q353R	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	353	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGGAAGCCTGGAGGTTGGG	0.597000														87			17		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087485	49087485	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49087485T>C	uc001rsd.4	-	8	1835	c.1512A>G	c.(1510-1512)cgA>cgG	p.R504R	CCNT1_uc009zkz.2_Silent_p.R219R|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	504					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						CTTTGTGCTCTCGGCTCTTTG	0.433000														566			49		0	0	1	0	0
PPIE	10450	broad.mit.edu	37	1	40211121	40211121	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40211121T>C	uc001cds.2	+	6	515	c.459T>C	c.(457-459)gcT>gcC	p.A153A	PPIE_uc010oiy.2_Silent_p.A74A|PPIE_uc001cdt.2_Silent_p.A87A|PPIE_uc001cdu.2_Non-coding_Transcript|PPIE_uc001cdw.3_Silent_p.A153A|PPIE_uc001cdv.3_Silent_p.A153A|PPIE_uc001cdx.2_Silent_p.A69A	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	Homo sapiens peptidylprolyl isomerase E (cyclophilin E) (PPIE), transcript variant 1, mRNA.	153	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	RNA binding|cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACAAGCCGGCTGGCCGCATCC	0.562000														38			5		0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7087524	7087524	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7087524T>G	uc001qsi.3	-	8	1133	c.1019A>C	c.(1018-1020)aAc>aCc	p.N340T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_Missense_Mutation_p.N234T|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Missense_Mutation_p.N198T	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	340					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	p.I339F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGCGTTGGTGTTGATGTTGAA	0.572000														288			6		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153595	101153595	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101153595T>C	uc003yjd.3	-	1	1623	c.887A>G	c.(886-888)gAg>gGg	p.E296G	FBXO43_uc003yje.3_Missense_Mutation_p.E262G|FBXO43_uc010mbp.2_Missense_Mutation_p.E296G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	296					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AAATATGTCCTCATCTGTTCC	0.403000														27			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265891	39265891	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39265891A>T	uc001uwv.3	+	0	4719	c.4410A>T	c.(4408-4410)gaA>gaT	p.E1470D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1470					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTCACCTGGAATGCACGGATC	0.468000														34			32		0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5832913	5832913	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:5832913G>A	uc003zjm.1	-	0	169	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	ERMP1_uc022bdc.1_5'Flank|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Silent_p.L39L	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	39					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCATCCACCAGAGGCTCCTGC	0.766000														2			10		0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19611757	19611757	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:19611757G>A	uc002gwe.4	-	6	770	c.595C>T	c.(595-597)Cca>Tca	p.P199S	SLC47A2_uc002gwg.4_Intron|SLC47A2_uc002gwf.4_Intron|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Intron|SLC47A2_uc010cqs.1_Intron|SLC47A2_uc010cqt.1_Intron	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	199						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GAGTGAGATGGATGGAGGATG	0.557000														163			119		0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6669263	6669263	+	Splice_Site	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6669263C>A	uc021qtw.1	-	15	1957	c.1777_splice	c.e15+1	p.G593_splice	NOP2_uc009zeq.2_Splice_Site_p.D309_splice|NOP2_uc021qtx.1_Splice_Site_p.G593_splice	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	597					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGATTACTTACCTGTCTGGGA	0.448000														23			31		5.60225e-13	5.63291e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179428659	179428659	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179428659A>C	uc021vsy.1	-	274	74721	c.74496T>G	c.(74494-74496)gcT>gcG	p.A24832A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A18527A|TTN_uc021vta.1_Silent_p.A18460A|TTN_uc021vtb.1_Silent_p.A18335A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25759	Fibronectin type-III 80.						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)			GTGAAATATTAGCACCACCAT	0.468000														54			20		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155798	151155798	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151155798G>A	uc011bod.2	-	5	6551	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F	IGSF10_uc011bob.2_Missense_Mutation_p.S211F|IGSF10_uc011boc.2_Missense_Mutation_p.S163F	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2184	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGAGAAGGAAATCATGTC	0.438000														1			102		0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75190470	75190470	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75190470T>C	uc001dgk.3	-	2	541	c.36A>G	c.(34-36)agA>agG	p.R12R	CRYZ_uc001dgj.3_Silent_p.R12R|CRYZ_uc001dgl.3_Silent_p.R12R|CRYZ_uc001dgm.3_Intron	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	12					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	ATTCAAAAACTCTAACAGCTC	0.368000														57			16		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604274	95604274	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:95604274T>G	uc001tdp.4	-	1	1010	c.786A>C	c.(784-786)aaA>aaC	p.K262N	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	262					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTATTGCTTTTTTCACTGT	0.378000														24			10		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190527	105190527	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:105190527T>G	uc003vda.1	+	7	1253	c.1022T>G	c.(1021-1023)cTt>cGt	p.L341R	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	341	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|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						GCTCAAGTACTTATGTGGATT	0.363000														45			16		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808288	18808288	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18808288G>A	uc001bax.3	+	0	865	c.813G>A	c.(811-813)gaG>gaA	p.E271E	KLHDC7A_uc009vpg.3_Silent_p.E53E	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	271						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGAATGGAGGAGCATTTCA	0.587000														140			32		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632721	158632721	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158632721G>A	uc001fst.1	-	16	2434	c.2235C>T	c.(2233-2235)atC>atT	p.I745I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	745					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTCTGTAAGGATATCCACCT	0.428000														40			29		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98550939	98550939	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:98550939C>T	uc003upp.3	+	38	5801	c.5592C>T	c.(5590-5592)ttC>ttT	p.F1864F	TRRAP_uc011kis.2_Silent_p.F1846F|TRRAP_uc003upr.3_Silent_p.F1563F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1864					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCATGACCTTCGCCTGGCCCT	0.612000														34			22		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558846	113558846	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:113558846G>A	uc010ljy.1	-	0	237	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	69					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATCCAAAGGAATCAGCAAA	0.418000														37			35		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68008685	68008685	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68008685A>G	uc001xjl.1	+	1	243	c.101A>G	c.(100-102)aAg>aGg	p.K34R		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	34						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGGCCAGCAAGATAAGGGAG	0.607000														10			4		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182871475	182871475	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182871475C>T	uc003flh.4	-	1	978	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	252					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTTACCGACTCCTTGTCTTGA	0.453000														91			30		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355697	79355697	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79355697G>A	uc021yaw.1	+	6	1147	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	319	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGCTACACAGGAAACGGGATC	0.527000														50			33		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30103745	30103745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:30103745G>A	uc001wqh.3	-	7	1374	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	398					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P398S(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCTTGTTGATGGACTTGAGAA	0.383000														41			72		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75520529	75520529	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75520529A>G	uc001juw.3	+	6	1089	c.909A>G	c.(907-909)gcA>gcG	p.A303A	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Silent_p.A161A|SEC24C_uc001jux.3_Silent_p.A303A|SEC24C_uc010qko.2_Silent_p.A161A|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	303					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACCCAGCAGCACCCACCTTTG	0.572000														37			7		0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6849702	6849702	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6849702C>T	uc003zkh.3	+	5	1209	c.629_splice	c.e5+2	p.W210_splice	KDM4C_uc010mhu.2_Splice_Site_p.W232_splice|KDM4C_uc010mhw.3_Splice_Site_p.W210_splice|KDM4C_uc011lmi.1_Splice_Site_p.W210_splice|KDM4C_uc011lmj.1_Splice_Site|KDM4C_uc003zkg.3_Splice_Site_p.W210_splice|KDM4C_uc011lmk.2_Splice_Site_p.W29_splice	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	210	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAAGTCTTGGCAAGTTACTTG	0.388000														67			15		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571406	30571406	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30571406A>G	uc003nqn.1	-	15	2162	c.1610T>C	c.(1609-1611)cTg>cCg	p.L537P	PPP1R10_uc010jsc.1_Missense_Mutation_p.L191P	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	537	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCCAGGTTCCAGAGTCTCAAC	0.498000														167			4		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105360106	105360106	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105360106C>T	uc001yps.3	+	14	4392	c.4086C>T	c.(4084-4086)ttC>ttT	p.F1362F	KIAA0284_uc010axb.3_Silent_p.F1327F|KIAA0284_uc001ypt.3_Silent_p.F65F	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1432						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGGTGATCTTCGATAACCTGA	0.652000														9			16		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91706	91706	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrGL000211.1:91706C>T	uc003bnz.1	+	6		c.1062C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GGTGCAGCACCGTTTTGAATT	0.353000														5			4		0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55647046	55647046	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:55647046T>G	uc002act.3	+	10	1704	c.1388T>G	c.(1387-1389)cTg>cGg	p.L463R	PIGB_uc010ugg.2_Missense_Mutation_p.L268R	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	463					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CCGCCAGACCTGACTGGAAAA	0.373000														21			3		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133357428	133357428	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:133357428A>C	uc001ukz.1	-	17	4097	c.3538T>G	c.(3538-3540)Tca>Gca	p.S1180A	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S1180A	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1180					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTCTCTAGTGAGGCCTGCAGG	0.557000														36			30		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875717	42875717	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:42875717T>A	uc001uys.2	+	7	3010	c.2835T>A	c.(2833-2835)tcT>tcA	p.S945S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	945					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TATCTAAATCTATTATTAAAC	0.393000														36			13		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491440	151491440	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151491440C>T	uc009wmw.3	+	1	589	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	143	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGTGGATCCTAGTAACAG	0.582000														34			31		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41048638	41048638	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:41048638T>C	uc004dfb.3	+	25	4520	c.3887T>C	c.(3886-3888)tTt>tCt	p.F1296S	USP9X_uc004dfc.3_Missense_Mutation_p.F1296S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1296					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCTTATGTTTTGCCTTGATT	0.403000														27			16		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000														31			36		0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101420	58101420	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58101420C>G	uc002qpg.3	+	3	338	c.241C>G	c.(241-243)Cag>Gag	p.Q81E	ZIK1_uc002qph.3_Missense_Mutation_p.Q26E|ZIK1_uc002qpi.3_Missense_Mutation_p.Q68E|ZIK1_uc002qpj.3_5'UTR	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D80N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACCTTCTGACCAGAATGTTTC	0.463000														59			14		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972167	56972167	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56972167C>T	uc002qne.3	-	4	842	c.51G>A	c.(49-51)ggG>ggA	p.G17G	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Silent_p.G17G|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGGCTAAGTCCCCAAATGTTA	0.448000														77			13		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117085953	117085953	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:117085953A>C	uc004bik.4	+	1	236	c.125A>C	c.(124-126)aAg>aCg	p.K42T	ORM1_uc011lxo.2_Missense_Mutation_p.K42T	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	42					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATCACTGGCAAGTGGTTTTAT	0.507000														74			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900364	13900364	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13900364G>A	uc003jfd.2	-	14	2252	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	737	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGAAGAGGGAAGTTGCCAG	0.408000									Kartagener syndrome					31			42		0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76105705	76105705	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:76105705C>T	uc001xrs.2	+	5	1511	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	FLVCR2_uc010tvd.1_Silent_p.L174L	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	379					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGAGACAACCCTGGTAGTCTA	0.428000														34			20		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165669	71165669	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71165669T>C	uc002jje.3	+	1	571	c.211T>C	c.(211-213)Tat>Cat	p.Y71H	SSTR2_uc021ucm.1_Missense_Mutation_p.Y71H	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	71					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	p.R70C(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CATCCTCCGCTATGCCAAGAT	0.478000														82			5		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57328102C>T	uc002qnu.2	-	6	2059	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541K|PEG3_uc002qnv.2_Missense_Mutation_p.E570K|PEG3_uc002qnw.2_Missense_Mutation_p.E446K|PEG3_uc002qnx.2_Missense_Mutation_p.E444K|PEG3_uc010etr.2_Missense_Mutation_p.E570K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	570					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)		AGGAAGGTTTCCTTACACACC	0.448000														108			51		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151341648	151341648	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151341648G>A	uc010pcy.2	-	3	448	c.318C>T	c.(316-318)ccC>ccT	p.P106P	SELENBP1_uc001exx.3_Silent_p.P64P|SELENBP1_uc010pcz.2_Intron|SELENBP1_uc001eya.3_5'UTR	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	64					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTGGGCATGGGCAGCCGGT	0.612000														85			67		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159146558	159146558	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:159146558G>A	uc003qrp.3	+	11	1143	c.744G>A	c.(742-744)ctG>ctA	p.L248L	SYTL3_uc003qrr.3_Silent_p.L248L|SYTL3_uc003qro.3_Silent_p.L180L|SYTL3_uc003qrs.3_Silent_p.L180L|SYTL3_uc011efq.2_Intron	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	248					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CAGATATTCTGAAACCTCTCA	0.423000														7			72		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065318	23065318	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23065318C>T	uc002wsv.3	-	0	1660	c.1512G>A	c.(1510-1512)agG>agA	p.R504R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	504				R -> G (in Ref. 1; AA sequence).	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R504K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCGGGGCCCCTTGTGGGAC	0.632000														75			54		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581180	24581180	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:24581180C>T	uc011djo.2	-	6	1753	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	KIAA0319_uc011djp.2_Missense_Mutation_p.G373E|KIAA0319_uc003neh.1_Missense_Mutation_p.G418E|KIAA0319_uc011djq.1_Missense_Mutation_p.G409E|KIAA0319_uc011djr.1_Missense_Mutation_p.G418E|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	418	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATTGACAAATCCTTCTCCAAA	0.393000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			69		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978004	138978004	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138978004T>C	uc011kqr.2	+	15	3696	c.3696T>C	c.(3694-3696)gcT>gcC	p.A1232A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1232										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATTATTGGCTAATGCCTCAC	0.418000														78			5		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296501	20296501	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20296501G>A	uc010tkv.2	+	0	894	c.894G>A	c.(892-894)atG>atA	p.M298I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTTCCATGAAAAAGGTGT	0.353000														41			4		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263128	167263128	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167263128G>A	uc002udu.2	-	24	4141	c.4011C>T	c.(4009-4011)tcC>tcT	p.S1337S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1337					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCACAAGGTAGGATCCTACTG	0.413000														35			41		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159241	118159241	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:118159241G>A	uc003yoh.3	+	1	350	c.120G>A	c.(118-120)gaG>gaA	p.E40E	SLC30A8_uc010mcz.3_5'UTR|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	40					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTCCCAGAGAGAGACCAGAGG	0.502000														41			12		0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993603	76993604	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76993603_76993604GG>AC	uc002jwj.3	-	1	596_597	c.101_102CC>GT	c.(100-102)gcc>gGT	p.A34G	CANT1_uc002jwn.3_Missense_Mutation_p.A34G|CANT1_uc002jwk.3_Missense_Mutation_p.A34G|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	34					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGGTCCGCGGCCTTGGTCAT	0.663000			T	ETV4	prostate									0			10		0	0	1	0	0
TTC32	130502	broad.mit.edu	37	2	20096798	20096798	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:20096798T>G	uc002rdg.3	-	2	535	c.406A>C	c.(406-408)Att>Ctt	p.I136L		NM_001008237	NP_001008238	Q5I0X7	TTC32_HUMAN	Homo sapiens tetratricopeptide repeat domain 32 (TTC32), mRNA.	136							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTCTAGAATAGTCTGTTTT	0.303000														7			13		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043680	25043680	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:25043680C>T	uc001wpq.3	-	3	402	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	122	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTTCACGTTTCGATTCCGTCT	0.642000														35			54		0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19407922	19407922	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19407922T>C	uc002nmh.3	-	7	1135	c.1119A>G	c.(1117-1119)ccA>ccG	p.P373P	SUGP1_uc002nmf.3_5'UTR|SUGP1_uc002nmg.3_5'UTR|SUGP1_uc002nmi.3_Silent_p.P163P|SUGP1_uc002nmj.3_Silent_p.P163P|SUGP1_uc010xqr.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	373	Pro-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTGCGGAGGCTGGCTTCCCGG	0.672000														68			6		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101417	123101417	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123101417C>T	uc003vkn.3	-	10	2578	c.2001G>A	c.(1999-2001)ttG>ttA	p.L667L	IQUB_uc011kny.2_5'UTR|IQUB_uc003vko.3_Silent_p.L667L|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	667										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATACCTGCATCAAGAAAGCAA	0.363000														41			25		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35902459	35902459	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:35902459G>A	uc002hoa.3	-	14	2900	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	SYNRG_uc010wde.2_Silent_p.I861I|SYNRG_uc010wdf.2_Silent_p.I861I|SYNRG_uc002hoc.3_Silent_p.I860I|SYNRG_uc002hoe.3_Silent_p.I861I|SYNRG_uc002hod.3_Silent_p.I816I|SYNRG_uc010wdg.2_Silent_p.I733I|SYNRG_uc002hob.3_Silent_p.I939I|SYNRG_uc002hof.3_Silent_p.I605I	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	939					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGTCATGGTGATGTTTTCAG	0.453000														1			86		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95107730	95107730	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95107730G>A	uc001ydt.3	+	1	335	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GGTTGACCAAGAAGCTTCTGA	0.582000														8			8		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965212	1965212	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:1965212G>A	uc021qsx.1	-	21	2349	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.I570I|CACNA2D4_uc009zdr.2_5'Flank	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	706						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGAGGAAGCGGATCATGGCCT	0.542000														26			21		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15558294	15558294	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15558294C>T	uc002yjm.3	-	2	602	c.592G>A	c.(592-594)Gga>Aga	p.G198R	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.G177R|LIPI_uc021whh.1_Missense_Mutation_p.G177R|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.G177R|LIPI_uc021whe.1_Missense_Mutation_p.G177R|LIPI_uc021whf.1_Missense_Mutation_p.G177R	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	177					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTTATTCTTCCAAGTTGACCA	0.313000														51			39		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110975	81110975	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81110975G>A	uc001szg.2	+	0	268	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E45*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCACAAAGCAGAGCTGCAGGG	0.617000														0			13		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075972	66075972	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:66075972T>G	uc001dci.3	+	13	2377	c.1988T>G	c.(1987-1989)cTt>cGt	p.L663R	LEPR_uc001dcg.3_Missense_Mutation_p.L663R|LEPR_uc001dch.3_Missense_Mutation_p.L663R|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.L663R|LEPR_uc001dcj.3_Missense_Mutation_p.L663R|LEPR_uc001dck.3_Missense_Mutation_p.L663R	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	663	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTCACTTTACTTTGGAAGGTA	0.279000														33			3		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4960939	4960939	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4960939T>G	uc002cyd.1	-	1	164	c.74A>C	c.(73-75)aAg>aCg	p.K25T		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	25					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGAGAGCTCCTTGTTAGAGAT	0.637000														25			8		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64559447	64559447	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64559447A>G	uc001obh.3	-	26	2118	c.2026T>C	c.(2026-2028)Tgc>Cgc	p.C676R	MAP4K2_uc001obi.3_Missense_Mutation_p.C668R	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	676	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGACGCGGCAGCCGGGCCCC	0.706000														13			5		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428052	119428052	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:119428052G>A	uc001ehl.1	-	7	1109	c.794C>T	c.(793-795)tCt>tTt	p.S265F	TBX15_uc009whj.1_Missense_Mutation_p.S89F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGTTGGAGGAGAACAGGATGG	0.502000														14			12		0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17891717	17891717	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:17891717A>C	uc001ipk.3	+	6	1301	c.1198A>C	c.(1198-1200)Agt>Cgt	p.S400R		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	400	C-type lectin 2.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						TGACCTCGCAAGTATCCACAC	0.463000														196			38		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67812980	67812980	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:67812980A>G	uc002lkp.2	-	17	2417	c.2349T>C	c.(2347-2349)ctT>ctC	p.L783L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	783							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTCACTGGTAAGATGGAATG	0.403000														49			7		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869447	174869447	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:174869447C>T	uc003mcz.3	-	1	1601	c.656G>A	c.(655-657)aGg>aAg	p.R219K	DRD1_uc021yia.1_Missense_Mutation_p.R219K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	219					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CTGAGCAATCCTGTAGATCCT	0.507000														63			33		0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600429	56600430	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56600429_56600430GG>AA	uc010eth.1	-	2	230_231	c.111_112CC>TT	c.(109-114)gtcccc>gtTTcc	p.P38S		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	38	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGCCAGCTGGGGACGTCGTCAT	0.678000														13			3		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168927	117168927	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:117168927G>A	uc004biy.4	-	8	1435	c.795C>T	c.(793-795)tcC>tcT	p.S265S	DFNB31_uc004bix.3_Silent_p.S297S|DFNB31_uc004biz.4_Silent_p.S648S|DFNB31_uc004bja.4_Silent_p.S648S	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	648					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAGATGGGGGAAGAGGGCA	0.682000														60			31		0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75130993	75130993	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75130993G>A	uc010ulq.1	-	9	1129	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	ULK3_uc010ulp.1_Silent_p.L275L|ULK3_uc010ulr.1_Silent_p.L248L|ULK3_uc010bkf.1_Silent_p.L365L|ULK3_uc002ayv.2_Silent_p.L365L|ULK3_uc010uls.1_Silent_p.L248L	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	365	MIT 2.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						CCTCTGAGCAGGTCTCGGGCA	0.667000														2			4		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39555014	39555014	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39555014A>C	uc001wup.1	-	6	1003	c.780T>G	c.(778-780)ccT>ccG	p.P260P	SEC23A_uc010tqa.1_Silent_p.P122P|SEC23A_uc010tqb.1_Silent_p.P231P|SEC23A_uc010tqc.1_Silent_p.P122P	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	260					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGGAACGCAAAGGTCTCTTTC	0.468000														89			27		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143292996	143292996	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:143292996C>T	uc003evn.3	-	7	1143	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	312					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCCGGTTTCCAGCATCGGG	0.498000														40			7		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046836	73046836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:73046836C>T	uc001sxa.3	+	16	2779	c.2749C>T	c.(2749-2751)Caa>Taa	p.Q917*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	917					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.Q917*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGTGCTGGATCAAGATGCAAT	0.343000														19			11		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937928	21937928	+	RNA	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:21937928T>C	uc010tzj.1	-	0		c.2812A>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCCTTTTCTTTCTTTTTACTT	0.423000														467			152		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739334	26739334	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26739334G>A	uc002rhk.3	-	4	588	c.461C>T	c.(460-462)cCa>cTa	p.P154L	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	154					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGAGCCTGGGAGCAGTCC	0.632000														58			71		0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43138585	43138585	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:43138585T>G	uc002xme.3	-	4	694	c.560A>C	c.(559-561)aAt>aCt	p.N187T	SERINC3_uc002xmf.1_Missense_Mutation_p.N187T|SERINC3_uc010ggs.1_Missense_Mutation_p.N180T|SERINC3_uc010zwp.1_Missense_Mutation_p.N132T	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	187						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCATGATTCATTCCAAGAATG	0.453000														62			42		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942465	11942465	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11942465C>T	uc002msp.1	+	3	630	c.474C>T	c.(472-474)tcC>tcT	p.S158S	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACCGCCCCTCCTTTAGAACAC	0.423000														112			84		0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45959846	45959846	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45959846A>C	uc001ncc.4	-	14	2091	c.1467T>G	c.(1465-1467)gaT>gaG	p.D489E	PHF21A_uc001ncb.4_Missense_Mutation_p.D443E|PHF21A_uc009ykx.3_Missense_Mutation_p.D443E|PHF21A_uc001nca.1_Missense_Mutation_p.D225E	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	489	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CGCTGCAAAAATCCTCATGAA	0.373000														56			11		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903429	4903429	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4903429C>T	uc010qyp.2	+	0	381	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCTTGCTTCATTCAAATGT	0.502000														45			37		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69221037	69221037	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69221037T>C	uc003dnv.2	-	22	3370	c.3080A>G	c.(3079-3081)gAt>gGt	p.D1027G	FRMD4B_uc003dnw.2_Non-coding_Transcript|FRMD4B_uc003dnu.2_Missense_Mutation_p.D679G|FRMD4B_uc011bga.1_Missense_Mutation_p.D871G	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	1027						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AGGCTTTGAATCTTCATGCCA	0.453000														382			14		0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38831811	38831811	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38831811G>A	uc003xmj.3	+	0	144	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	10					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CGGACCGCGGGGCTGGGACGA	0.622000														19			18		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330486	75330486	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75330486G>A	uc021rwo.1	-	0	52	c.52C>T	c.(52-54)Cta>Tta	p.L18L	PROX2_uc001xqp.2_Silent_p.L18L|PROX2_uc001xqq.2_Silent_p.L18L	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	18					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCTTCTGCTAGGTGGGAGCAG	0.557000														32			30		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21771644	21771644	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21771644C>T	uc001ber.3	+	1	415	c.65C>T	c.(64-66)tCc>tTc	p.S22F	NBPF3_uc001bes.3_5'UTR|NBPF3_uc009vqb.3_Missense_Mutation_p.S22F|NBPF3_uc010odm.2_Missense_Mutation_p.S22F	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	22						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTAGAAACTTCCCCATTCGGT	0.582000														36			11		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2613086	2613086	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2613086A>C	uc003sml.1	+	5	613	c.429A>C	c.(427-429)aaA>aaC	p.K143N	IQCE_uc010ksm.1_Missense_Mutation_p.K143N|IQCE_uc011jvy.1_Missense_Mutation_p.K127N|IQCE_uc011jvz.1_Missense_Mutation_p.K78N|IQCE_uc003smo.4_Missense_Mutation_p.K143N|IQCE_uc003smk.4_Missense_Mutation_p.K127N|IQCE_uc003smn.4_Missense_Mutation_p.K78N	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	143										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACAGAGAAAAAGAAGATATGT	0.343000														30			9		0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148495081	148495081	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148495081C>T	uc010lpg.3	+	18	2526	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	CUL1_uc003wey.3_Missense_Mutation_p.T667I|CUL1_uc003wez.3_Missense_Mutation_p.T557I|CUL1_uc003wfa.3_Missense_Mutation_p.T328I	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	667					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGCCAGATACCTTAATAAAA	0.383000														23			16		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329828	19329828	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19329828C>T	uc002nlz.3	+	2	277	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	60	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTGCCCTGTCTCTTTACCCT	0.647000														29			25		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105169532	105169532	+	Missense_Mutation	SNP	A	T	T	rs111421816		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105169532A>T	uc001kwy.1	+	7	1034	c.947A>T	c.(946-948)aAg>aTg	p.K316M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	316	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.P315P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGGATCCCAAGAAAGCTGGA	0.413000														51			5		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918003	57918003	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:57918003G>A	uc002aei.3	+	4	569	c.438G>A	c.(436-438)ctG>ctA	p.L146L	GCOM1_uc002aej.3_Silent_p.L146L|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Silent_p.L146L|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.L146L	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	146				Missing (in Ref. 2; ADA68358).	intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGGAGTATCTGGAGAATCACA	0.488000														1			31		0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193458	30193458	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30193458A>G	uc002wwg.2	+	0	373	c.268A>G	c.(268-270)Agc>Ggc	p.S90G	ID1_uc002wwh.2_Missense_Mutation_p.S90G|MIR3193_uc021wbt.1_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	Homo sapiens inhibitor of DNA binding 1, dominant negative helix-loop-helix protein (ID1), transcript variant 1, mRNA.	90	Helix-loop-helix motif.				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCGCAAGGTGAGCAAGGTGGA	0.597000														14			5		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111845626	111845626	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111845626A>G	uc001pml.3	+	4	872	c.575A>G	c.(574-576)gAg>gGg	p.E192G	DIXDC1_uc001pmj.3_Missense_Mutation_p.E185G|DIXDC1_uc001pmk.3_Missense_Mutation_p.E192G|DIXDC1_uc001pmm.3_5'Flank	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	192	Actin-binding.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GAGGAAATTGAGAATCCATAC	0.507000														8			3		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834386	101834386	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:101834386G>A	uc003knn.3	-	0	335	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SLCO6A1_uc003kno.3_Missense_Mutation_p.P55S|SLCO6A1_uc003knp.3_Missense_Mutation_p.P55S|SLCO6A1_uc003knq.3_Missense_Mutation_p.P55S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	55						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGGCCTCTGGAAGTAGTCTC	0.572000														87			80		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104742	29104742	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:29104742G>A	uc002kwu.4	+	7	1093	c.905G>A	c.(904-906)gGt>gAt	p.G302D		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	302	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GATGAAATAGGTTCTGATAAT	0.378000														4			34		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241907749	241907749	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:241907749T>G	uc001hzg.2	+	11	1702	c.1495T>G	c.(1495-1497)Ttc>Gtc	p.F499V	WDR64_uc021plh.1_Missense_Mutation_p.F293V|WDR64_uc021pli.1_Missense_Mutation_p.F219V	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	499										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACCTCATGGTTTCAATACTGA	0.438000														55			14		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721273	66721273	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:66721273G>A	uc002lkk.2	+	9	1664	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	CCDC102B_uc002lki.2_Missense_Mutation_p.D481N	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	481										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAGCTTGATGATTCCCTGAA	0.368000														3			32		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396751	220396751	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220396751G>A	uc002vlz.3	+	2	1311	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	ASIC4_uc010fwi.2_Silent_p.R379R|ASIC4_uc010fwj.2_Silent_p.R379R|ASIC4_uc002vly.2_Silent_p.R379R|ASIC4_uc002vma.3_Silent_p.R379R|ASIC4_uc002vmb.3_Silent_p.R33R	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	379						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CAGGTATTCGGGTGCAGATCC	0.632000														74			113		0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29391577	29391577	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29391577A>C	uc001brm.2	+	15	2218	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	EPB41_uc001brg.2_Silent_p.P474P|EPB41_uc001brh.2_Silent_p.P455P|EPB41_uc001brj.2_Silent_p.P434P|EPB41_uc001bri.2_Silent_p.P608P|EPB41_uc001brk.3_Silent_p.P683P|EPB41_uc001brl.2_Silent_p.P664P|EPB41_uc021okg.1_Silent_p.P643P|EPB41_uc009vtm.2_Silent_p.P276P|EPB41_uc009vtl.2_Silent_p.P434P	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	697	Spectrin--actin-binding.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGTCTGTACCAGAACCACGGC	0.448000														82			41		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417647	178417647	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178417647C>T	uc003mjr.3	-	3	1137	c.958G>A	c.(958-960)Gag>Aag	p.E320K	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	320					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCACGTCCTCCAGGCTCAAG	0.672000														11			5		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052594	17052594	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:17052594G>A	uc011awc.2	+	2	1828	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	PLCL2_uc011awd.2_Missense_Mutation_p.E460K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	586					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTTACTGACGAAGATGAAGG	0.423000														15			28		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101436178	101436178	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101436178C>T	uc010svm.1	+	11	1658	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	ANO4_uc001thw.2_Silent_p.F327F|ANO4_uc001thx.2_Silent_p.F362F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	362						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCATGCTCTTCCCAGCTGCCT	0.488000										HNSCC(74;0.22)				1			24		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543260	182543260	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:182543260C>T	uc021vto.1	-	0	328	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.E110K|NEUROD1_uc021vtn.1_Missense_Mutation_p.E110K	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	110					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R109L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGGTTCCGCTCCCGGGCGTTA	0.542000														13			33		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43609983	43609983	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:43609983C>T	uc001jal.3	+	10	2125	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	RET_uc001jak.1_Silent_p.S645S|RET_uc010qez.1_Silent_p.S391S	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	645					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTCTTCTCCTTCATCGTCT	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					27			3		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495964	205495964	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205495964A>C	uc001hcr.3	+	8	1081	c.819_splice	c.e8+1	p.K273_splice	CDK18_uc010pri.2_Splice_Site|CDK18_uc001hcp.3_Splice_Site_p.K243_splice|CDK18_uc001hcq.3_Splice_Site_p.K243_splice|CDK18_uc010prj.2_Splice_Site_p.K154_splice|CDK18_uc001hcs.3_Splice_Site_p.K154_splice|CDK18_uc009xbm.1_Splice_Site_p.K168_splice	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	241	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CACAACGTCAAGGTGAGGCCT	0.622000														125			33		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364033	5364033	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5364033G>A	uc001map.1	-	0	722	c.722C>T	c.(721-723)tCc>tTc	p.S241F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S241F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATATGGGAGACACAGGT	0.433000														55			45		0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6293684	6293684	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6293684A>C	uc001amk.3	-	2	377	c.304T>G	c.(304-306)Ttg>Gtg	p.L102V	ICMT_uc001aml.3_Missense_Mutation_p.L6V	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	102					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TAGTGGAACAATGACAGGGAG	0.428000														77			17		0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16255803	16255803	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16255803T>G	uc010ktx.2	-	8	1139	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	ISPD_uc010kty.2_Missense_Mutation_p.K330T|LOC100506025_uc003stf.3_Intron|LOC100506025_uc022aae.1_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	380					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGGTACTAATTTAAAATCAAG	0.303000										Multiple Myeloma(15;0.18)				9			3		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129221	84129221	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:84129221T>C	uc002fhi.3	-	3	1113	c.611A>G	c.(610-612)cAg>cGg	p.Q204R		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	204					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATATCCCATCTGCCAGAGCAC	0.567000														21			21		0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590773	172590773	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:172590773C>T	uc003mci.4	+	6	769	c.665C>T	c.(664-666)tCc>tTc	p.S222F	BNIP1_uc003mcj.4_Missense_Mutation_p.S179F|BNIP1_uc003mck.4_Missense_Mutation_p.S188F|BNIP1_uc003mcl.4_Missense_Mutation_p.S145F|BNIP1_uc021yhw.1_Missense_Mutation_p.S92F	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	179					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATTTAAGTCCATGTCGGGC	0.498000														29			22		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544965	35544966	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35544965_35544966CC>TT	uc011dte.1	-	9	1274_1275	c.1071_1072GG>AA	c.(1069-1074)aggggt>agAAgt	p.G358S	FKBP5_uc003okx.2_Missense_Mutation_p.G358S|FKBP5_uc011dtf.1_Missense_Mutation_p.G179S|FKBP5_uc003oky.2_Missense_Mutation_p.G358S	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	358					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGGGCTTCACCCCTCCTATACA	0.446000														91			58		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157962	155157962	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:155157962C>T	uc002tyt.4	+	6	1120	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	GALNT13_uc002tyr.4_Missense_Mutation_p.S339F|GALNT13_uc010foc.1_Missense_Mutation_p.S158F|GALNT13_uc010fod.3_Missense_Mutation_p.S92F	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	339	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTTACTTGCTCCCATGTTGGT	0.423000														91			30		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786022	112786022	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112786022T>G	uc002thk.1	+	18	2703	c.2581T>G	c.(2581-2583)Ttg>Gtg	p.L861V	MERTK_uc002thl.1_Missense_Mutation_p.L685V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	861					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTTAGAAAGTTTGCCTGACGT	0.498000														48			32		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208303	50208303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50208303C>T	uc010eng.3	+	8	1127	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	CPT1C_uc002ppl.4_Missense_Mutation_p.R237C|CPT1C_uc002ppi.3_Missense_Mutation_p.R188C|CPT1C_uc002ppk.3_Missense_Mutation_p.R260C|CPT1C_uc010enh.3_Missense_Mutation_p.R271C|CPT1C_uc002ppj.3_Missense_Mutation_p.R271C|CPT1C_uc010ybc.1_Missense_Mutation_p.R109C|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	271					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCAGGCAGCTCGCGCTGGGAA	0.652000														48			38		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725729	28725729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28725729C>T	uc002kwn.3	-	6	1046	c.784G>A	c.(784-786)Gga>Aga	p.G262R	DSC1_uc002kwm.3_Missense_Mutation_p.G262R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	262	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTCACTTTTCCCACTGAAGTT	0.348000														13			12		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52937239	52937239	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:52937239A>C	uc001wzs.3	-	14	1921	c.1472T>G	c.(1471-1473)tTt>tGt	p.F491C	TXNDC16_uc010tqu.2_Missense_Mutation_p.F486C|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	491	Thioredoxin.				cell redox homeostasis	extracellular region		p.F491F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CAGCTGGATAAATTTTAGGAG	0.333000														24			6		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258081	8258081	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:8258081G>A	uc003sro.4	-	5	569	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ICA1_uc010ktr.3_Missense_Mutation_p.R145W|ICA1_uc003srm.3_Missense_Mutation_p.R145W|ICA1_uc003srn.4_Missense_Mutation_p.R71W|ICA1_uc003srq.3_Missense_Mutation_p.R145W|ICA1_uc003srr.3_Missense_Mutation_p.R144W|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.R145W	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	145	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCCCGATGCCGAAAAGTCTCC	0.483000														52			39		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757802	62757802	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:62757802G>A	uc003peg.2	-	2	564	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	106	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.S106T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATCTCTCATTGATCCTTTGCC	0.398000														51			38		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449727	158449727	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158449727G>A	uc010pik.2	+	0	60	c.60G>A	c.(58-60)caG>caA	p.Q20Q	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCCTTTGCAGATCTTGGCAG	0.423000														57			52		0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74710289	74710289	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:74710289G>A	uc002axv.3	-	3	434	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	SEMA7A_uc010ulk.2_5'UTR|SEMA7A_uc010ull.2_Missense_Mutation_p.L118F	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	132	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCTCCAGGAGAGTGATGTAG	0.627000														34			30		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17833866	17833866	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:17833866G>A	uc003stv.3	-	25	2890	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	SNX13_uc010kuc.3_Missense_Mutation_p.R690C|SNX13_uc003stw.1_3'UTR|SNX13_uc010kub.3_Missense_Mutation_p.R299C	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	904					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCAAAAACACGAAGAATACCT	0.363000														15			7		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597229	18597229	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:18597229A>G	uc002dfg.3	+	6	793	c.593A>G	c.(592-594)gAg>gGg	p.E198G	ABCC6P1_uc010vam.2_Missense_Mutation_p.E141G					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		CTTGAAAAGGAGTGGATGAGG	0.557000														49			22		0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21204199	21204199	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21204199C>T	uc002gys.3	+	4	558	c.293C>T	c.(292-294)aCc>aTc	p.T98I	MAP2K3_uc002gyt.3_Missense_Mutation_p.T69I|MAP2K3_uc021tsq.1_Missense_Mutation_p.T69I|MAP2K3_uc021tsr.1_Missense_Mutation_p.T69I	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	98	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ATCCGGGCCACCGTGAACTCA	0.607000														48			24		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795537	9795537	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9795537G>A	uc001aqh.3	-	12	2630	c.1871C>T	c.(1870-1872)aCc>aTc	p.T624I	CLSTN1_uc001aqi.3_Missense_Mutation_p.T614I|CLSTN1_uc010oag.2_Missense_Mutation_p.T605I|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	624					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATTGTGCTGGTGATTTTGAG	0.493000														127			75		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055948	167055948	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167055948G>A	uc010fpl.3	-	26	5509	c.5168C>T	c.(5167-5169)tCt>tTt	p.S1723F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1734						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)	TATTCCAACAGATGGGTTACC	0.408000														80			132		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48629525	48629525	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48629525C>T	uc002ird.3	+	13	2082	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	SPATA20_uc002irc.3_Silent_p.P298P|SPATA20_uc002ire.3_Silent_p.P587P|SPATA20_uc002irf.3_Silent_p.P631P|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	631					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTGGCCTGCCCCTGCGTCTGA	0.652000														16			11		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188843	41188843	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41188843G>A	uc002oon.3	-	3	448	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	NUMBL_uc010xvq.2_Missense_Mutation_p.R53W|NUMBL_uc010xvr.2_Missense_Mutation_p.R53W|NUMBL_uc002ooo.3_Missense_Mutation_p.R94W	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	94	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.R94W(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGCATTCCCCGGGACTCCTCT	0.592000														59			47		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525116	248525116	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248525116C>T	uc001ieh.1	+	0	234	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTCCTGATCCTTCTGATAC	0.473000														154			74		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622533	38622533	+	Silent	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38622533G>C	uc021wvo.1	-	15	3169	c.3117C>G	c.(3115-3117)ccC>ccG	p.P1039P	SCN5A_uc021wvk.1_Silent_p.P1039P|SCN5A_uc021wvl.1_Silent_p.P1039P|SCN5A_uc021wvm.1_Silent_p.P1039P|SCN5A_uc021wvn.1_Silent_p.P1039P|SCN5A_uc021wvp.1_Silent_p.P1039P|SCN5A_uc021wvq.1_Silent_p.P1039P|SCN5A_uc021wvr.1_Silent_p.P1039P|SCN5A_uc021wvs.1_Silent_p.P1039P|SCN5A_uc021wvt.1_Silent_p.P1039P|SCN5A_uc021wvu.1_Silent_p.P1039P|SCN5A_uc021wvv.1_Silent_p.P1039P|SCN5A_uc021wvj.1_Silent_p.P905P|SCN5A_uc021wvi.1_Silent_p.P905P|SCN5A_uc021wvw.1_Silent_p.P650P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1039					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGATCCCCGGGGGTGCCCT	0.642000														10			11		0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105651964	105651964	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105651964A>C	uc001kxl.3	-	6	875	c.800T>G	c.(799-801)tTt>tGt	p.F267C	OBFC1_uc001kxm.3_Missense_Mutation_p.F267C	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	267					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		AGCATTCTTAAATATACTATG	0.343000														16			15		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198641	170198641	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:170198641G>A	uc003fgz.2	-	6	1746	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	477						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTGTTGGTGGCTGGGCCAGA	0.507000														168			79		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32417814	32417814	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32417814A>G	uc003jhr.1	-	3	584	c.504T>C	c.(502-504)gcT>gcC	p.A168A	ZFR_uc010iun.1_Silent_p.A168A	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	168	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTACAGCAGCAGCAGTTGCTG	0.428000														136			7		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42561953	42561953	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42561953T>G	uc011dur.2	+	3	740	c.442T>G	c.(442-444)Ttc>Gtc	p.F148V	UBR2_uc003osf.3_Missense_Mutation_p.F148V	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	148					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGTGGAGGTTTCTGTGACTG	0.353000														90			4		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39494786	39494786	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39494786G>A	uc003xni.3	+	7	647	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Intron	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	198	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTCAGTATGATTATATGGG	0.274000														30			13		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472176	28472176	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28472176G>A	uc021yrx.1	-	4	609	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	187					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGCCCCACCAGAAATTTCTCA	0.522000														34			23		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701068	30701068	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30701068T>G	uc003xil.3	-	0	5466	c.5466A>C	c.(5464-5466)ttA>ttC	p.L1822F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1822										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCAGGTCTTCTAAACTATCTC	0.368000														67			5		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626391	154626391	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:154626391C>T	uc003inq.3	+	2	2551	c.2332C>T	c.(2332-2334)Ctg>Ttg	p.L778L	TLR2_uc003inr.3_Silent_p.L778L|TLR2_uc003ins.3_Silent_p.L778L|TLR2_uc021xtl.1_Silent_p.L778L	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	778	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTGGGTAAATCTGAGAGCTGC	0.458000														32			19		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532597	50532597	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50532597G>A	uc021pqb.1	+	0	2007	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	C10orf71_uc021pqa.1_Silent_p.E668E|C10orf71_uc021pqc.1_Silent_p.E669E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	669										endometrium(1)	1						ACCAGCTAGAGAATGGGCTCT	0.542000														2			9		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344938	20344938	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20344938C>T	uc001vwh.1	+	0	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGTGGTCCCTATGAGGTA	0.483000														201			111		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377355	125377355	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125377355C>T	uc011lyy.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGGAAAACTTCATCCTGGCTG	0.448000														40			60		0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43775598	43775598	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:43775598A>C	uc001mxq.4	+	2	445	c.210A>C	c.(208-210)ttA>ttC	p.L70F	HSD17B12_uc001mxp.2_Non-coding_Transcript	NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	70					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						TGTTTCAGTTAGCAAAGCATG	0.368000														113			8		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139061	126139061	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:126139061G>A	uc001uhe.1	+	8	3050	c.3042G>A	c.(3040-3042)atG>atA	p.M1014I	TMEM132B_uc001uhf.1_Missense_Mutation_p.M526I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1014						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGAACCTATGAATTCTTCGG	0.458000														1			22		0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22473546	22473546	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22473546T>C	uc003xch.3	+	13	1879	c.1630T>C	c.(1630-1632)Ttt>Ctt	p.F544L	KIAA1967_uc003xci.3_Missense_Mutation_p.F544L|KIAA1967_uc003xcj.1_Missense_Mutation_p.F213L	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	544					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGCCGAGCTGTTTCTGGAGAT	0.542000														76			10		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169204672	169204672	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:169204672G>A	uc003irp.3	-	12	1939	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	549							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTTCGAAGAGACTGTTTCTA	0.358000														15			6		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412116	77412116	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77412116C>T	uc001oyn.3	-	5	2278	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	RSF1_uc001oym.3_Missense_Mutation_p.E468K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	720					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTGTATTTTCTGAGGCAGTG	0.423000														37			47		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104309240	104309240	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104309240C>T	uc004bbn.3	+	6	976	c.886C>T	c.(886-888)Cta>Tta	p.L296L		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	296					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGCAGAAGTCCTAGAACGGGT	0.453000														20			10		0	0	1	0	0
AY455283	0	broad.mit.edu	37	12	8048301	8048301	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:8048301A>G	uc001qtp.1	+	1	289	c.209A>G	c.(208-210)gAa>gGa	p.E70G						SubName: Full=Uncharacterized protein;																		CAGATGCAAGAACTTTCCAAC	0.418000														20			13		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65349240	65349240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:65349240C>T	uc003dmn.3	-	20	3921	c.3395G>A	c.(3394-3396)gGa>gAa	p.G1132E	MAGI1_uc003dmm.3_Missense_Mutation_p.G1160E|MAGI1_uc003dmo.3_Missense_Mutation_p.G1161E|MAGI1_uc003dmp.3_Missense_Mutation_p.G1065E	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1161	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGCCAAATCCCTTGGCTCC	0.448000														65			189		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890970	2890970	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2890970A>T	uc002kln.3	+	3	1004	c.845A>T	c.(844-846)gAg>gTg	p.E282V		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	282					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGCTGGAAGAGCTGGATGGA	0.493000														92			14		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232249	185232249	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185232249G>A	uc003fpm.3	-	7	1153	c.1043C>T	c.(1042-1044)aCc>aTc	p.T348I	LIPH_uc010hyh.3_Missense_Mutation_p.T314I	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	348					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAATTTGATGGTAATGTCCCC	0.373000														108			26		0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184966221	184966221	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184966221T>C	uc003fpf.3	-	1	235	c.159A>G	c.(157-159)gcA>gcG	p.A53A	EHHADH_uc011brs.2_5'UTR	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	53	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ATTTGCCCTCTGCTCCACAAA	0.413000														222			7		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328379	31328379	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31328379A>C	uc003aje.1	-	24	3986	c.2622T>G	c.(2620-2622)gcT>gcG	p.A874A		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	936							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTGAATTCATAGCACTCAGCT	0.483000														140			12		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38885522	38885522	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38885522C>T	uc003jln.2	+	5	1177	c.775C>T	c.(775-777)Cct>Tct	p.P259S	OSMR_uc003jlm.2_Missense_Mutation_p.P259S	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	259					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACTTGGGATCCTGGGACGGA	0.443000														111			25		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746243	37746243	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37746243C>T	uc004aag.1	+	15	4258	c.4214C>T	c.(4213-4215)tCc>tTc	p.S1405F	FRMPD1_uc004aah.1_Missense_Mutation_p.S1405F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1405						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGTACTGCTCCAGGGCACTG	0.607000														18			12		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251210	1251210	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1251210C>T	uc002qwq.3	+	11	1129	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SNTG2_uc010ewi.3_Missense_Mutation_p.P207S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	334	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTCAGCACTCCTCCGGTAAG	0.547000														27			8		0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714466	9714466	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9714466A>C	uc001aqc.4	-	0	179	c.29T>G	c.(28-30)cTt>cGt	p.L10R	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTGTGCTAAGAACAGGGCA	0.587000														94			15		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52623165	52623165	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52623165A>G	uc003des.2	-	17	2898	c.2886T>C	c.(2884-2886)gaT>gaC	p.D962D	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.D962D|PBRM1_uc003der.2_Silent_p.D930D|PBRM1_uc003det.2_Silent_p.D977D|PBRM1_uc003deu.2_Silent_p.D977D|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.D962D|PBRM1_uc010hmk.1_Silent_p.D962D|PBRM1_uc003dey.2_Silent_p.D962D|PBRM1_uc003dez.1_Silent_p.D961D|PBRM1_uc003dfb.1_Silent_p.D874D|PBRM1_uc003dfa.1_Silent_p.D308D	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	962	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATAGACGTAATCTCCAACAT	0.443000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									110			7		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093047	143093047	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:143093047T>A	uc003qjd.3	-	4	3572	c.2829A>T	c.(2827-2829)cgA>cgT	p.R943R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	943					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TATCTGCAAGTCGCAGACGCT	0.572000														41			18		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236719413	236719413	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:236719413T>C	uc001hyd.2	-	37	5653	c.5501A>G	c.(5500-5502)gAg>gGg	p.E1834G	HEATR1_uc009xgh.2_Missense_Mutation_p.E996G	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1834					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAGTTCTTCTCAATCTGCTT	0.418000														90			7		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631579	74631579	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:74631579T>G	uc002axt.2	-	7	1391	c.1236_splice	c.e7+1	p.K412_splice	CYP11A1_uc002axs.2_Splice_Site_p.K254_splice|CYP11A1_uc010bjm.1_Splice_Site_p.K254_splice|CYP11A1_uc010bjn.1_Splice_Site|CYP11A1_uc010bjp.1_Splice_Site	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	412					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGCACCTACCTTGGCAGGAAT	0.592000														13			11		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36593010	36593010	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36593010C>T	uc002odd.2	+	25	3268	c.3177C>T	c.(3175-3177)ttC>ttT	p.F1059F	WDR62_uc002odc.2_Silent_p.F1059F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1059					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)			AGGAGAAGTTCCTCCGCCACC	0.652000														126			49		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117793	117793	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrGL000205.1:117793G>A	uc002kgk.4	+	0		c.1171G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGCAGGATGGGATCGAGCGGT	0.547000														119			14		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174572	150174572	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150174572G>A	uc003whj.3	+	4	2032	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	568						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CACCCGGAAGGAAGACCTAGG	0.488000														74			37		0	0	1	0	0
PSMB6	5694	broad.mit.edu	37	17	4701345	4701345	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4701345C>T	uc002fzb.3	+	4	507	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_002798	NP_002789	P28072	PSB6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 6 (PSMB6), mRNA.	158					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TAAGGCAGTCCTTTGCCATTG	0.527000														79			57		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769761	37769761	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37769761G>A	uc003asq.4	-	2	2600	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	ELFN2_uc021wph.1_Missense_Mutation_p.P605L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	605				P -> S (in Ref. 1; BAB67797).		cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCCTTGTAGGGAGGCGAAAG	0.692000														7			5		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517546	36517546	+	Silent	SNP	C	T	T	rs150506662		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36517546C>T	uc010eeq.2	-	3	818	c.504G>A	c.(502-504)gcG>gcA	p.A168A	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Silent_p.A168A	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	168					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.A168T(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAAAATAGGCCGCGTAGTGAA	0.687000														15			14		0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26680769	26680769	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26680769A>T	uc002haz.3	-	4	514	c.384T>A	c.(382-384)acT>acA	p.T128T	POLDIP2_uc010wag.2_Non-coding_Transcript	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	130						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTAAGTGTGAGTTTTGCCTT	0.532000														223			9		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647797	10647797	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:10647797C>T	uc010rcc.1	-	8	1470	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	MRVI1_uc010rcb.1_Missense_Mutation_p.G354R|MRVI1_uc001miw.2_Missense_Mutation_p.G353R|MRVI1_uc001mix.3_Missense_Mutation_p.G47R|MRVI1_uc001miz.2_Missense_Mutation_p.G271R|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.G47R|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	335					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGGCCTCTCCCCTGGGAGGCT	0.692000														16			6		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161680618	161680618	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161680618G>T	uc001gbe.3	+	2	459	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Missense_Mutation_p.D67Y|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.D67Y|FCRLA_uc001gbf.3_Missense_Mutation_p.D67Y|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	50	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCACACGGAGGATGACTTGAC	0.562000														34			34		1.99505e-19	2.0105e-19	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100617735	100617735	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:100617735T>G	uc003dun.3	-	3	438	c.353A>C	c.(352-354)aAa>aCa	p.K118T	ABI3BP_uc003duo.2_Missense_Mutation_p.K111T|ABI3BP_uc003dup.4_Missense_Mutation_p.K111T	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	118						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGAACGAGTTTTACCTGTGGA	0.483000														53			14		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792231	44792231	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44792231G>A	uc002oza.4	-	4	1460	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.H449Y	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCTTCAGTGTGGACTCTCTGA	0.403000														55			13		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031093	79031093	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79031093G>A	uc003kgc.3	+	1	6577	c.6505G>A	c.(6505-6507)Gaa>Aaa	p.E2169K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2169						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTTCCTGAGGAAAAGGGAAA	0.458000														22			22		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20882029	20882029	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:20882029A>G	uc003zog.1	+	21	2840	c.2477A>G	c.(2476-2478)cAa>cGa	p.Q826R	FOCAD_uc003zoh.1_Missense_Mutation_p.Q262R	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	826						integral to membrane	binding										ACAAACAAGCAACCAGGACTG	0.378000														57			24		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129634186	129634186	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129634186G>A	uc021zfb.1	+	22	3460	c.3355G>A	c.(3355-3357)Gat>Aat	p.D1119N	LAMA2_uc003qbn.3_Missense_Mutation_p.D1119N|LAMA2_uc003qbo.3_Missense_Mutation_p.D1119N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1119	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACAACCTGTGATTCAGAGAC	0.498000														3			44		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420855	420855	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:420855A>G	uc001lpi.2	-	17	1581	c.1496T>C	c.(1495-1497)gTg>gCg	p.V499A	ANO9_uc001lph.2_Missense_Mutation_p.V192A|ANO9_uc010qvv.1_Missense_Mutation_p.V355A	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	499						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGTGGGTCACCCACCTGCG	0.746000														17			4		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140477853	140477854	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:140477853_140477854CA>AT	uc003vwc.4	-	11	1515_1516	c.1454_1455TG>AT	c.(1453-1455)ttg>tAT	p.L485Y		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	485	Protein kinase.		L -> F (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(4)|p.L485F(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CTGTCACATTCAACATTTTCAC	0.361000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					26			31		0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512192	248512192	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248512192G>A	uc010pzl.2	+	0	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACTCTAATGGGAAACATCCTC	0.433000														47			59		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476094	42476094	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42476094A>C	uc002igw.2	-	7	3570	c.3351T>G	c.(3349-3351)aaT>aaG	p.N1117K	GPATCH8_uc002igv.2_Missense_Mutation_p.N1039K|GPATCH8_uc010wiz.2_Missense_Mutation_p.N1039K	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1117						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCCCAGCTTTATTAGGGGTGG	0.537000														91			7		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021677	55021677	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:55021677T>G	uc002lgn.3	+	1	581	c.224T>G	c.(223-225)aTt>aGt	p.I75S		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	75					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTCGTGCCCATTACGAATTCT	0.493000														90			4		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35884163	35884163	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35884163C>T	uc001byt.3	+	28	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_uc009vuu.3_Silent_p.L1445L|ZMYM4_uc001byu.3_Silent_p.L1153L|ZMYM4_uc009vuv.3_Silent_p.L1216L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1477					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGTTTTACCTGTCAAAATG	0.413000														41			48		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120920	38120920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:38120920G>A	uc001izd.1	-	5	1862	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Nonsense_Mutation_p.Q455*	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGTTCTCTGATGTTCAGTG	0.458000														58			23		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800829	27800829	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27800829A>T	uc002rkz.4	+	0	1441	c.1390A>T	c.(1390-1392)Acc>Tcc	p.T464S		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	464										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCAGGGACAACCCCAGGACC	0.468000														30			14		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169080	37169080	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37169080A>C	uc011cpa.1	-	33	7277	c.7046T>G	c.(7045-7047)cTt>cGt	p.L2349R	C5orf42_uc011coy.1_Missense_Mutation_p.L849R|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L1424R|C5orf42_uc003jkr.1_Missense_Mutation_p.L382R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2349										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGATATCTCAAGGGTCCCTGG	0.383000														113			7		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131897828	131897828	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:131897828C>T	uc002tsi.4	+	5	1219	c.635C>T	c.(634-636)cCc>cTc	p.P212L	PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsg.4_Missense_Mutation_p.P171L|PLEKHB2_uc002tsj.4_Missense_Mutation_p.P170L|PLEKHB2_uc002tsf.4_Missense_Mutation_p.P179L|PLEKHB2_uc010zap.2_Intron|PLEKHB2_uc010zaq.2_Missense_Mutation_p.P127S|PLEKHB2_uc010zao.2_Missense_Mutation_p.P121L	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 3, mRNA.	171						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TATGCCGTGCCCTACCAGTAC	0.507000														18			5		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31314355	31314355	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31314355T>G	uc010dmg.1	+	9	1113	c.1058T>G	c.(1057-1059)tTc>tGc	p.F353C	ASXL3_uc002kxq.2_Missense_Mutation_p.F60C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.F353S(1)|p.F60S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAGAAAAATTCTTTGAGAGG	0.333000														12			3		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546095	11546095	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11546095C>T	uc010shk.1	-	2	952	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.602000														241			138		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947394	45947394	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45947394T>G	uc002zfe.1	-	6	996	c.930A>C	c.(928-930)gaA>gaC	p.E310D	TSPEAR_uc010gpv.1_Missense_Mutation_p.E242D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	310					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGTCCAGTCTTTCTTTGGCTT	0.537000														81			7		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548509	52548509	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52548509G>A	uc001vfw.2	-	1	1004	c.847C>T	c.(847-849)Cta>Tta	p.L283L	ATP7B_uc001vfy.2_Intron|ATP7B_uc010adv.2_Silent_p.L283L|ATP7B_uc001vfx.2_Silent_p.L283L|ATP7B_uc010tgt.1_Silent_p.L283L|ATP7B_uc010tgu.1_Silent_p.L283L|ATP7B_uc010tgv.1_Silent_p.L283L|ATP7B_uc010tgw.1_Silent_p.L251L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	283	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGAACCCCTAGGAGCTGGCCA	0.473000									Wilson disease					56			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90154133	90154133	+	RNA	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:90154133A>T	uc010yts.2	+	32		c.3865A>T								Parts of antibodies, mostly variable regions.																		TGCATCCACCAGGGCCACTGG	0.562000														113			8		0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20822247	20822247	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20822247G>A	uc001vxc.3	+	7	671	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	PARP2_uc001vxb.1_Missense_Mutation_p.E215K|PARP2_uc001vxd.3_Missense_Mutation_p.E202K|PARP2_uc010tle.2_5'UTR	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	215					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTATAGGATGAAGAGGAAAC	0.338000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						35			9		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680062	33680062	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33680062G>A	uc002hjg.4	-	4	2266	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLFN11_uc010ctr.3_Silent_p.F673F|SLFN11_uc010ctp.3_Silent_p.F673F|SLFN11_uc010ctq.3_Silent_p.F673F|SLFN11_uc002hjh.4_Silent_p.F673F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	673						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCAGTACGGAAATTCTGAG	0.448000														7			113		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197304	81197304	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81197304G>A	uc002fgh.1	-	20	3378	c.3378C>T	c.(3376-3378)gcC>gcT	p.A1126A	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1126					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTGGCTTCGGGCTGGAAAGG	0.542000														0			3		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672797	31672797	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:31672797G>A	uc010zue.2	+	3	792	c.777G>A	c.(775-777)ggG>ggA	p.G259G		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	259						cytoplasm|extracellular region	lipid binding										CCATCAACGGGAAGAGGTGCG	0.627000														21			16		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687944	30687944	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30687944T>G	uc010csz.3	+	5	865	c.518T>G	c.(517-519)cTg>cGg	p.L173R	ZNF207_uc002hhj.4_Missense_Mutation_p.L170R|ZNF207_uc002hhh.4_Missense_Mutation_p.L170R|ZNF207_uc002hhi.4_Missense_Mutation_p.L170R|ZNF207_uc002hhk.1_Missense_Mutation_p.L170R|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTCCTCCTCTGATGCCAGGA	0.388000														26			3		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2937789	2937789	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2937789A>G	uc002klo.3	-	6	1308	c.1069T>C	c.(1069-1071)Tct>Cct	p.S357P		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	357					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCTAACATAGATGAAATCTGA	0.527000														125			4		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033821	228033821	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:228033821C>T	uc001hrh.3	+	4	893	c.893C>T	c.(892-894)cCt>cTt	p.P298L		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	298					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACGCCCACTCCTGCTCAGCCA	0.562000														38			35		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763093	43763093	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43763093T>A	uc002owd.4	-	3	1003	c.904A>T	c.(904-906)Aga>Tga	p.R302*	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Nonsense_Mutation_p.R209*|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	302	Ig-like C2-type 2.				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)				GTTTCATTTCTCGTGACACTG	0.488000														98			19		0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238672405	238672405	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238672405C>T	uc002vxe.3	+	10	2341	c.2049C>T	c.(2047-2049)acC>acT	p.T683T	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Silent_p.T659T|LRRFIP1_uc002vxf.3_Silent_p.T627T	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	683					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGATGACACCGTTCAATCAT	0.443000														27			12		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7654023	7654023	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7654023C>T	uc001qsz.3	-	2	297	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CD163_uc001qta.3_Missense_Mutation_p.E57K|CD163_uc009zfw.2_Missense_Mutation_p.E57K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	57	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTGTTTTCACCATCCACT	0.458000														49			58		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485268	5485268	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:5485268G>A	uc002gci.3	-	2	1118	c.563C>T	c.(562-564)tCc>tTc	p.S188F	NLRP1_uc002gcg.1_Missense_Mutation_p.S188F|NLRP1_uc002gch.4_Missense_Mutation_p.S188F|NLRP1_uc002gck.3_Missense_Mutation_p.S188F|NLRP1_uc002gcj.3_Missense_Mutation_p.S188F|NLRP1_uc002gcl.3_Missense_Mutation_p.S188F|NLRP1_uc010clh.3_Missense_Mutation_p.S188F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	188					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTGAGGTGGGGATCCCCAGCT	0.597000														0			95		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006660	9006660	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9006660C>T	uc002mkp.3	-	43	39792	c.39588G>A	c.(39586-39588)gaG>gaA	p.E13196E	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.E13E|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13198	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGAACACTCTCCGTGATGT	0.522000														110			85		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141403	48141403	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48141403A>G	uc001rpz.4	-	14	2030	c.1480T>C	c.(1480-1482)Tca>Cca	p.S494P	RAPGEF3_uc001rpx.3_5'Flank|RAPGEF3_uc010sln.2_Missense_Mutation_p.S16P|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.S452P|RAPGEF3_uc009zkq.3_Missense_Mutation_p.S452P|RAPGEF3_uc001rqa.3_Missense_Mutation_p.S16P	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	452					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACCAGGTCTGAGAGTTTCTAA	0.587000														80			15		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77339628	77339628	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77339628T>C	uc004ajl.1	-	38	6208	c.5970A>G	c.(5968-5970)atA>atG	p.I1990M	TRPM6_uc004ajk.1_Missense_Mutation_p.I1985M|TRPM6_uc022bib.1_Missense_Mutation_p.I1985M|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.I941M|TRPM6_uc010mpd.1_Missense_Mutation_p.I823M|TRPM6_uc010mpe.1_Missense_Mutation_p.I537M|TRPM6_uc004ajj.1_Missense_Mutation_p.I946M	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1990					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGTGGAATTTATCCTTTCAG	0.393000														62			17		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410823	5410823	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5410823G>A	uc003soi.4	-	10	3751	c.3402C>T	c.(3400-3402)cgC>cgT	p.R1134R		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1134	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGGGGACAAGCGGATGGGCT	0.701000														17			19		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406016	85406016	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85406016A>C	uc002ble.3	+	9	5053	c.4886A>C	c.(4885-4887)aAg>aCg	p.K1629T	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1629	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCCAGGCCAAGGTCATCTAC	0.612000														21			11		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157816030	157816030	+	Missense_Mutation	SNP	T	C	C	rs139394762		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:157816030T>C	uc003fbs.3	-	5	993	c.854A>G	c.(853-855)cAc>cGc	p.H285R	SHOX2_uc003fbr.3_Missense_Mutation_p.H261R|SHOX2_uc010hvw.3_Missense_Mutation_p.H249R	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	261					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGGTGGTGGTGCGCGTGCGC	0.642000														151			18		0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183793	89183793	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:89183793T>C	uc003hrm.4	-	6	1463	c.1073A>G	c.(1072-1074)aAc>aGc	p.N358S		NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	358					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GAATGAGAAGTTGATTTCAGA	0.458000														30			8		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150345358	150345358	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:150345358G>A	uc010ntg.2	+	0	303	c.165G>A	c.(163-165)aaG>aaA	p.K55K	GPR50_uc011myc.2_Silent_p.K55K	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	55					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGACGAAGAACAAGAAGC	0.498000														4			67		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444798	63444798	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:63444798C>T	uc011mou.2	-	9	1948	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	MTMR8_uc004dvq.2_Missense_Mutation_p.D236N|MTMR8_uc004dvr.2_Missense_Mutation_p.D245N	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCACCAAAATCGATTAACAGC	0.502000														0			14		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30883809	30883809	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30883809A>C	uc011dmz.2	+	5	729	c.648A>C	c.(646-648)gcA>gcC	p.A216A	VARS2_uc003nsc.2_Silent_p.A186A|VARS2_uc003nsd.3_Silent_p.A186A|VARS2_uc011dmx.2_Silent_p.A186A|VARS2_uc011dmy.2_Silent_p.A46A|VARS2_uc011dna.2_Silent_p.A186A|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	186					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CAGATCATGCAGGAATTGCTA	0.473000														206			37		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661397	77661397	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77661397G>A	uc011cbx.2	+	4	3024	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	SHROOM3_uc011cbz.1_Missense_Mutation_p.G515S|SHROOM3_uc003hkf.1_Missense_Mutation_p.G566S|SHROOM3_uc003hkg.3_Missense_Mutation_p.G469S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	691					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTACCCCGGGGGCAGGCCCAC	0.622000														52			86		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21788238	21788238	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:21788238G>A	uc003svc.3	+	52	8603	c.8572G>A	c.(8572-8574)Gct>Act	p.A2858T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2858	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGGGCTGTGCTCTCTTGGT	0.562000									Kartagener syndrome					38			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737584	13737584	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13737584A>T	uc003jfd.2	-	65	11274	c.11232T>A	c.(11230-11232)acT>acA	p.T3744T	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3744	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATCAGATGAGTTCTTTCTT	0.378000									Kartagener syndrome					47			8		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026836	93026836	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:93026836T>C	uc022axs.1	-	3	803	c.616A>G	c.(616-618)Aga>Gga	p.R206G	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R120G|RUNX1T1_uc010mam.3_Missense_Mutation_p.R120G|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R110G|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R147G|RUNX1T1_uc022axo.1_Missense_Mutation_p.R147G|RUNX1T1_uc010mao.3_Missense_Mutation_p.R120G|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R158G|RUNX1T1_uc022axp.1_Missense_Mutation_p.R147G|RUNX1T1_uc022axq.1_Missense_Mutation_p.R147G|RUNX1T1_uc022axr.1_Missense_Mutation_p.R147G|RUNX1T1_uc022axt.1_Missense_Mutation_p.R147G|RUNX1T1_uc022axu.1_Missense_Mutation_p.R127G|RUNX1T1_uc022axv.1_Missense_Mutation_p.R147G|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R110G|RUNX1T1_uc003yff.1_Missense_Mutation_p.R110G|RUNX1T1_uc003yfg.2_Missense_Mutation_p.R110G	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	147	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R206Q(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGCGAACTCTTTCTCCTATC	0.517000														80			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113267620	113267620	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113267620C>T	uc003ynu.3	-	61	10058	c.9899G>A	c.(9898-9900)gGa>gAa	p.G3300E	CSMD3_uc003yns.3_Missense_Mutation_p.G2502E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3260E|CSMD3_uc011lhx.2_Missense_Mutation_p.G3131E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3300	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTCTTTTTCCTTGGGCAGG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				20			15		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732584	88732584	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88732584G>A	uc003hqx.4	+	6	574	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	159	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		gaagaggaaggaaatgaaaac	0.438000														17			7		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719185	50719185	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50719185A>C	uc003bkv.4	-	23	4074	c.3981T>G	c.(3979-3981)tcT>tcG	p.S1327S	PLXNB2_uc003bkt.1_Silent_p.S119S|PLXNB2_uc003bku.1_Silent_p.S312S	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1327					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGATGAGGAAAGACTTGCTGT	0.652000														24			4		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781241	135781241	+	Missense_Mutation	SNP	G	A	A	rs118203566		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135781241G>A	uc004cca.2	-	14	1958	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	TSC1_uc004ccb.3_Missense_Mutation_p.S574F|TSC1_uc011mcq.1_Missense_Mutation_p.S524F|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	575					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGTCTCCAAAGAAGTCTGGCA	0.542000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					20			26		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729232	42729232	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42729232A>C	uc002osz.1	+	2	833	c.677A>C	c.(676-678)gAg>gCg	p.E226A	ZNF526_uc021uvc.1_Missense_Mutation_p.E226A	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	226	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTAGAGAAAGAGGAGCGCAAT	0.552000														88			16		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411752	50411752	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50411752T>C	uc002prb.3	-	1	1557	c.1313A>G	c.(1312-1314)gAg>gGg	p.E438G	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.E438G|NUP62_uc002pqy.3_Missense_Mutation_p.E438G|NUP62_uc002pra.3_Missense_Mutation_p.E438G|NUP62_uc002pqz.3_Missense_Mutation_p.E438G|NUP62_uc002prc.3_Missense_Mutation_p.E362G|NUP62_uc021uya.1_Missense_Mutation_p.E438G	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	438					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATCGATGTTCTCAGCCAGCTT	0.607000														131			26		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8994108	8994108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:8994108G>A	uc001quz.4	+	10	1322	c.1224G>A	c.(1222-1224)tgG>tgA	p.W408*	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	252						extracellular space	endopeptidase inhibitor activity	p.W408C(2)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATCCGGTTGGAATGGGACAG	0.473000														38			20		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44698859	44698859	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44698859G>A	uc002xrd.3	-	1	883	c.355C>T	c.(355-357)Cct>Tct	p.P119S	NCOA5_uc002xrc.3_Missense_Mutation_p.P7S|NCOA5_uc002xre.3_Missense_Mutation_p.P119S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	119	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGTACATAGGATCTCGGGAG	0.413000														12			29		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566573	37566573	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:37566573G>A	uc002hrv.4	-	16	2113	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	MED1_uc010wee.2_Missense_Mutation_p.S462L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	634	Interaction with PPARGC1A and THRA.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCGGCCATCGAAGAGACAGG	0.517000										HNSCC(31;0.082)				3			39		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15564465	15564465	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:15564465C>T	uc002rcc.1	-	22	2577	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	NBAS_uc010exl.1_Missense_Mutation_p.E43K|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	851										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTATTTCCTCTGCTCTGGTC	0.483000														19			32		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595299	12595299	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:12595299G>A	uc001ilo.3	+	1	403	c.168G>A	c.(166-168)aaG>aaA	p.K56K	CAMK1D_uc001iln.3_Silent_p.K56K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	56	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTATCCCTAAGAAGGCGCTGA	0.507000														30			52		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014012	21014012	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21014012C>T	uc001bdr.4	-	7	1925	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Missense_Mutation_p.E603K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	603					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGGGGCACCTCCTGCGGCTCC	0.652000														31			65		0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109535528	109535528	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:109535528C>T	uc001tnz.2	+	0	130	c.44C>T	c.(43-45)cCc>cTc	p.P15L	UNG_uc001toa.2_5'Flank	NM_080911	NP_550433	P13051	UNG_HUMAN	Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA.	15					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCCCCCAGCCCCGCCAGGAAG	0.716000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM					0			6		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69264140	69264140	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69264140G>A	uc001sup.3	-	4	532	c.471C>T	c.(469-471)ccC>ccT	p.P157P	CPM_uc001sur.3_Silent_p.P157P|CPM_uc001suq.3_Silent_p.P157P	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	157					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAAAAGCATCGGGGAAATTTC	0.398000														84			27		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122217648	122217648	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:122217648G>A	uc002tnc.3	-	11	1476	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.F362F|CLASP1_uc010yza.2_Silent_p.F362F|CLASP1_uc021vnl.1_Silent_p.F362F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Silent_p.F362F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	362					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATGTTGAAAGAAGTTATCAT	0.403000														42			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755114	140755114	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140755114C>T	uc003ljy.2	+	0	1464	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.S488S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAAGTCTCCTACTCACTGG	0.577000														70			59		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:3952901A>T	uc011bvu.2	-	2		c.207T>A			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		CACCGGGCATACTTGACTGAC	0.552000														31			13		0	0	1	0	0
FAM122A	116224	broad.mit.edu	37	9	71395913	71395913	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:71395913T>G	uc004agw.1	+	0	950	c.833T>G	c.(832-834)tTt>tGt	p.F278C	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	278								p.P277P(1)|p.P277S(1)		endometrium(1)|lung(2)	3						GCTTCTCCATTTATTCCACTA	0.473000														143			62		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188023	81188023	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:81188023C>T	uc003hmd.3	+	0	282	c.45C>T	c.(43-45)atC>atT	p.I15I	FGF5_uc003hme.3_Silent_p.I15I	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	15					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCCACCTGATCCTCAGCGCCT	0.607000														45			13		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637572	248637572	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248637572G>A	uc001iel.1	+	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCTCTGAGGAGCATGATGC	0.468000														212			56		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266765	48266765	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48266765T>C	uc002iqm.3	-	38	2928	c.2802A>G	c.(2800-2802)aaA>aaG	p.K934K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	934	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGGGGATCCTTTCTCGCCAG	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							78			33		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35546640	35546640	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35546640G>A	uc003zww.3	+	1	377	c.122G>A	c.(121-123)aGa>aAa	p.R41K	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.R41K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	41						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592000														23			31		0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30439235	30439235	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30439235G>A	uc002ynb.3	-	4	638	c.539C>T	c.(538-540)gCc>gTc	p.A180V	CCT8_uc011acp.2_Missense_Mutation_p.A161V|CCT8_uc002yna.3_Missense_Mutation_p.A129V|CCT8_uc011acq.2_Missense_Mutation_p.A107V	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	180					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AATAAGCTTGGCCAGAAATAC	0.348000														25			21		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338307	13338307	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:13338307G>A	uc003gms.3	+	0		c.3271G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						GTTGGACAGTGGTAAAGAGCT	0.428000														2			17		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307056	43307056	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43307056T>G	uc003oux.3	-	9	4758	c.4680A>C	c.(4678-4680)ttA>ttC	p.L1560F	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1560					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGGCTGTGGCTAAGCATGAAT	0.493000														70			4		0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38423887	38423887	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38423887C>T	uc001cci.3	-	16	1601	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SF3A3_uc010oik.2_Missense_Mutation_p.E440K	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	493					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCAGATCCTCGTATGTCTTC	0.423000														51			29		0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524089	108524089	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:108524089G>A	uc003vfo.3	-	1	371	c.323C>T	c.(322-324)tCt>tTt	p.S108F		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	108						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CTTTGGAAAAGATTTTGCATA	0.328000														24			15		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789358	76789358	+	Missense_Mutation	SNP	A	C	C	rs148492740		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:76789358A>C	uc001jwn.1	+	17	5269	c.4776A>C	c.(4774-4776)caA>caC	p.Q1592H	KAT6B_uc001jwo.1_Missense_Mutation_p.Q1300H|KAT6B_uc001jwp.1_Missense_Mutation_p.Q1409H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1592	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACGATTGCCAACAGTCGGACC	0.552000														2			44		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171337701	171337701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:171337701C>T	uc003mbm.1	-	2	619	c.248G>A	c.(247-249)tGg>tAg	p.W83*	FBXW11_uc011dey.1_Nonsense_Mutation_p.W51*|FBXW11_uc003mbl.1_Nonsense_Mutation_p.W70*|FBXW11_uc003mbn.1_Nonsense_Mutation_p.W49*	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	83	Homodimerization domain D (By similarity).				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGATTCAGACCACTGGTCAAA	0.368000														12			6		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275837	150275837	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150275837C>T	uc021yfx.1	-	6	1440	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ZNF300_uc021yfy.1_Missense_Mutation_p.E322K|ZNF300_uc021yfz.1_Missense_Mutation_p.E286K	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAGGTTTCTCCCCAGTATGA	0.398000														32			19		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38652320	38652320	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38652320G>A	uc010cxb.3	-	1	522	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	120					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTCCCTGGGGGAAGCAGCTGG	0.577000														5			97		0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437280	44437280	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44437280C>T	uc001ckz.3	+	3	901	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Missense_Mutation_p.R101W|DPH2_uc001clb.3_Missense_Mutation_p.R160W	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	236					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGACCTGAGTCGGCTGCTCTT	0.622000														71			63		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089716	86089716	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:86089716G>A	uc021rxf.1	+	0	1858	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	FLRT2_uc001xvr.3_Missense_Mutation_p.G620R|FLRT2_uc010atd.3_Missense_Mutation_p.G620R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	620					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTCCTTAAAGGAGATTTCAG	0.468000														173			141		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734613	110734613	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110734613C>T	uc009wfq.3	+	6	1345	c.884C>T	c.(883-885)cCc>cTc	p.P295L	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	295					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATGCTGGACCCCCAGGTGTGG	0.542000														45			32		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380743	56380743	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56380743G>A	uc001nja.1	-	0	236	c.236C>T	c.(235-237)cCa>cTa	p.P79L	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCATATTTGGAGTAACATT	0.458000														56			62		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149868101	149868101	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149868101G>A	uc010zbu.2	+	24	3180	c.2785G>A	c.(2785-2787)Gga>Aga	p.G929R	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.G211R	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	929	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCCGCCCCGGACACTACCC	0.498000														25			14		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704353	68704353	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68704353C>T	uc001ook.1	+	12	2507	c.2405C>T	c.(2404-2406)cCa>cTa	p.P802L	IGHMBP2_uc001ool.1_Missense_Mutation_p.P426L|IGHMBP2_uc001oom.1_Missense_Mutation_p.P380L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	802	Gln/Pro-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCGGTGGCCCAGCCCCTCTC	0.692000														12			11		0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152773	58152773	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58152773C>T	uc002qpr.2	+	5	1414	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	ZNF211_uc010yhb.1_Missense_Mutation_p.H311Y|ZNF211_uc002qpp.2_Missense_Mutation_p.H320Y|ZNF211_uc002qpq.2_Missense_Mutation_p.H307Y|ZNF211_uc002qpt.2_Missense_Mutation_p.H319Y|ZNF211_uc010yhc.1_Missense_Mutation_p.H319Y|ZNF211_uc010yhe.1_Missense_Mutation_p.H298Y|ZNF211_uc010yhd.1_Missense_Mutation_p.H246Y	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGAGAGTTCATACTGGAGA	0.423000														80			39		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21039985	21039985	+	Missense_Mutation	SNP	G	A	A	rs114164909	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21039985G>A	uc001bdr.4	-	2	560	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	KIF17_uc001bds.4_Missense_Mutation_p.R148W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	148	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGGAGGTCCCGGACATCTTCA	0.582000														26			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202219	140202219	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140202219G>A	uc003lhl.2	+	0	859	c.859G>A	c.(859-861)Gat>Aat	p.D287N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.D287N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.D287N	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	303	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTGACGATGTAAAGTC	0.318000														11			5		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360756	107360756	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107360756T>G	uc011lvp.2	-	0	939	c.939A>C	c.(937-939)agA>agC	p.R313S		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TAAAATTTTTTCTTCTCAGTA	0.333000														21			7		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493648	86493648	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:86493648G>A	uc003uid.3	+	5	3716	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	GRM3_uc010lef.3_Missense_Mutation_p.R515Q|GRM3_uc010leg.3_Missense_Mutation_p.D745N|GRM3_uc010leh.3_Missense_Mutation_p.D465N	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	873					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAAGTCCTCGACTCCACCAC	0.468000														70			31		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150075217	150075217	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150075217T>G	uc003lst.3	-	6	719	c.597A>C	c.(595-597)aaA>aaC	p.K199N		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	199					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAACGGTCTTTAATATTCT	0.428000														20			9		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123907603	123907603	+	Missense_Mutation	SNP	A	C	C	rs149157218		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123907603A>C	uc004bkx.1	+	19	3281	c.3250A>C	c.(3250-3252)Atg>Ctg	p.M1084L	CNTRL_uc004bky.1_Missense_Mutation_p.M688L|CNTRL_uc004bla.1_Missense_Mutation_p.M532L|CNTRL_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1084					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAATGAGACAATGGAACGACA	0.403000														66			15		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6975183	6975183	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6975183C>T	uc001qri.4	+	19	2578	c.2519C>T	c.(2518-2520)tCc>tTc	p.S840F	USP5_uc001qrh.4_Missense_Mutation_p.S817F|TPI1_uc001qrk.3_5'Flank|TPI1_uc010sfo.2_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	840					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GTGTGTGCCTCCGAGAAGCCG	0.527000														33			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727723	13727723	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13727723C>T	uc003jfd.2	-	69	11968	c.11926G>A	c.(11926-11928)Gaa>Aaa	p.E3976K	DNAH5_uc003jfc.2_Missense_Mutation_p.E144K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3976					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCGGGTTTTCCTTATCAAAC	0.403000									Kartagener syndrome					26			40		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49064691	49064691	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:49064691T>C	uc001zwz.3	-	12	1968	c.1775A>G	c.(1774-1776)gAg>gGg	p.E592G	CEP152_uc001zwy.3_Missense_Mutation_p.E592G|CEP152_uc001zxa.2_Missense_Mutation_p.E499G	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	592					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TACCTCAACCTCAATGCTTTT	0.348000														15			17		0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2412373	2412373	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2412373C>T	uc003slx.3	+	11	1836	c.1753C>T	c.(1753-1755)Ccg>Tcg	p.P585S	EIF3B_uc003sly.3_Missense_Mutation_p.P585S|EIF3B_uc003sma.3_Missense_Mutation_p.P313S	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	585					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CGGAGAGGCTCCGCGGATATC	0.468000														36			28		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383161	152383161	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152383161C>T	uc001ezx.2	-	2	471	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	133					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCCCTCATAATGCTGC	0.632000														178			172		0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045918	76045918	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:76045918C>T	uc001xrs.2	+	0	979	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	201					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCTCCCGCATCGCTTCCGTCT	0.587000														35			23		0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4406552	4406552	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4406552G>A	uc001lyy.1	-	6	1504	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	464	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AATATTCAGTGGACAGAGGGT	0.507000														16			13		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739096	164739096	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164739096C>T	uc003fei.3	-	26	3238	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1059	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTCTGTCTTCATAAGTACTT	0.358000										HNSCC(35;0.089)				79			167		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915580	22915580	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22915580T>C	uc001bfx.1	+	4	1321	c.1196T>C	c.(1195-1197)gTg>gCg	p.V399A	EPHA8_uc001bfw.3_Missense_Mutation_p.V399A	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	399	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCCTGCTGGTGGCCAACCTG	0.692000														31			8		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969163	72969163	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:72969163C>T	uc001sxa.3	+	10	2155	c.2125C>T	c.(2125-2127)Cat>Tat	p.H709Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	709					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATCCGGAATCATGAGGTACA	0.348000														4			19		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824490	54824490	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54824490C>T	uc002xxb.2	+	0	703	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	234					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATGTTCTTCGCCATGATGC	0.587000														42			51		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21205643	21205643	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:21205643C>T	uc002npj.3	+	1	233	c.52C>T	c.(52-54)Cct>Tct	p.P18S	ZNF430_uc002npk.3_Missense_Mutation_p.P18S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGTGGATGCCCTGGGGCTGA	0.443000														40			34		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541788	133541788	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:133541788G>A	uc002ttp.3	-	13	2970	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	866							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATGTTTTGGAATGTGTGGA	0.542000														42			53		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9845627	9845627	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9845627A>G	uc021wsu.1	+	4	493	c.488A>G	c.(487-489)aAg>aGg	p.K163R	TTLL3_uc003btb.2_Missense_Mutation_p.K54R|TTLL3_uc003bta.2_Missense_Mutation_p.K54R|TTLL3_uc003bsz.2_Missense_Mutation_p.K144R|TTLL3_uc003btd.4_Intron|TTLL3_uc003btc.2_Intron	NM_001198780	NP_001185709	Q9Y4R7	TTLL3_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 4, 20kDa (ARPC4), transcript variant 4, mRNA.	0	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GAGATTGACAAGGAGATCAGT	0.473000														85			22		0	0	1	0	0
C14orf80	283643	broad.mit.edu	37	14	105958612	105958612	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105958612G>A	uc001yrm.3	+	2	522	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	C14orf80_uc001yrj.3_Missense_Mutation_p.R93Q|C14orf80_uc001yrk.3_Missense_Mutation_p.R91Q|C14orf80_uc001yrn.3_Missense_Mutation_p.R132Q|C14orf80_uc001yro.3_Missense_Mutation_p.R132Q|C14orf80_uc010tys.2_Missense_Mutation_p.R6Q	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	Homo sapiens chromosome 14 open reading frame 80 (C14orf80), transcript variant 1, mRNA.	132										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		GCCCAGGCCCGAGTGCCTCTG	0.667000														69			41		0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675466	31675466	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31675466G>A	uc003nwb.1	+	1	284	c.284G>A	c.(283-285)gGa>gAa	p.G95E	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.G95E	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	95	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TGGTTGGAGGGATCCAAAGAG	0.572000														19			13		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1245947	1245947	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:1245947T>A	uc009xhq.3	-	7	2149	c.1823A>T	c.(1822-1824)cAg>cTg	p.Q608L	ADARB2_uc001igm.4_Missense_Mutation_p.Q117L	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	608	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.Q608*(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCGGGCAGCTGGCCGACACC	0.687000														20			3		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	1986929	1986929	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1986929T>C	uc001aiq.3	+	1	282	c.121T>C	c.(121-123)Tgt>Cgt	p.C41R		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	41	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CGAGGAGCTCTGTGAGGAAGT	0.582000														42			17		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400568	67400568	+	Missense_Mutation	SNP	G	A	A	rs60988467		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67400568G>A	uc001omp.3	-	4	644	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	186					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ATAGAGTTGAGAATGATCTGT	0.597000														137			104		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175710078	175710078	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:175710078C>T	uc003ity.1	-	1	591	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GLRA3_uc003itz.1_Missense_Mutation_p.E30K	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	30					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTGTCTGTTTCCTTTGTGGCA	0.338000														18			9		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183577	13183577	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:13183577C>T	uc010obg.2	-	1	539	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	99						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CGCTGCGGATCGTTTCACACC	0.502000														44			38		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14569135	14569135	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14569135A>T	uc002myp.3	+	8	1535	c.1367A>T	c.(1366-1368)gAg>gTg	p.E456V	PKN1_uc002myq.3_Missense_Mutation_p.E462V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	456	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGACAATGAGAGGCATGAG	0.582000														49			13		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261042	32261042	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32261042C>T	uc021yvt.1	-	22	1581	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E387K|C6orf10_uc011dpz.2_Missense_Mutation_p.E468K|C6orf10_uc021yvu.1_Missense_Mutation_p.E468K|C6orf10_uc021yvv.1_Missense_Mutation_p.E454K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	470						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACTTGGGATTCCAGTGTTTCT	0.408000														133			106		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729535	110729535	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110729535A>G	uc003puc.3	-	3	369	c.365_splice	c.e3+1	p.G122_splice	METTL24_uc003pub.2_Splice_Site|DDO_uc003pud.3_Splice_Site_p.G122_splice	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	94					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TTCTTCACTTACCCTGATACC	0.393000														28			8		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914464	147914464	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:147914464G>A	uc003weu.2	+	18	3611	c.3095G>A	c.(3094-3096)aGa>aAa	p.R1032K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1032					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532000										HNSCC(39;0.1)				53			45		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006163	34006163	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34006163C>T	uc001bxm.1	-	59	9770	c.9593G>A	c.(9592-9594)gGa>gAa	p.G3198E	CSMD2_uc001bxn.1_Missense_Mutation_p.G3054E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3174	Sushi 26.					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)				GGACCCATTTCCCTCACAGGT	0.582000														44			63		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43436448	43436448	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43436448A>G	uc003tid.1	+	6	1196	c.591A>G	c.(589-591)caA>caG	p.Q197Q	HECW1_uc011kbi.1_Silent_p.Q197Q|HECW1_uc003tie.1_Silent_p.Q229Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	197	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACCGTCCAAGGACAAGGAA	0.418000														63			4		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919780	142919780	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142919780C>T	uc011ksx.2	+	0	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	203					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGGGATCTTCGTTCCTCTGA	0.502000														41			46		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182870235	182870235	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182870235C>T	uc003flh.4	-	2	1040	c.816G>A	c.(814-816)ggG>ggA	p.G272G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	272					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGCCACAGTTCCCAGAGGCTT	0.448000														452			54		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187171539	187171539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187171539G>A	uc003iyy.3	+	6	812	c.741G>A	c.(739-741)tgG>tgA	p.W247*	KLKB1_uc011clc.2_Missense_Mutation_p.G35E|KLKB1_uc011cld.2_Nonsense_Mutation_p.W209*	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	247	Apple 3.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.W247*(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAAATGTATGGAAAATCGAGT	0.453000														58			25		0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773475	17773475	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:17773475T>C	uc002rcm.3	+	1	518	c.134T>C	c.(133-135)cTc>cCc	p.L45P		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	45	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGCTAAATCTCGAGGAATTT	0.433000														70			46		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398855	196398855	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196398855C>T	uc001gtd.1	-	8	731	c.671G>A	c.(670-672)gGa>gAa	p.G224E	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.G224E|KCNT2_uc001gtf.1_Missense_Mutation_p.G224E|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.G224E|KCNT2_uc009wyv.1_Missense_Mutation_p.G199E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	224						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCTTCTTTCCTATTCGTTC	0.383000														26			17		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38700805	38700805	+	Splice_Site	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38700805A>T	uc010lwp.3	+	11	2501	c.2122_splice	c.e11-2	p.N708_splice	TACC1_uc003xma.3_Splice_Site_p.N146_splice|TACC1_uc003xmb.4_Splice_Site_p.N634_splice|TACC1_uc003xlz.3_Splice_Site_p.N513_splice|TACC1_uc003xmc.4_Splice_Site_p.N512_splice|TACC1_uc011lbz.2_Splice_Site_p.N695_splice|TACC1_uc003xmf.4_Splice_Site_p.N298_splice|TACC1_uc011lca.2_Splice_Site_p.N691_splice|TACC1_uc011lcb.2_Splice_Site_p.N484_splice|TACC1_uc011lcd.2_Splice_Site|TACC1_uc003xmh.4_Splice_Site_p.N525_splice|TACC1_uc010lwq.3_Splice_Site_p.N524_splice	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	708	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCTTTGGAACAGAATGAAGAA	0.348000														141			32		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794185	4794185	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4794185A>G	uc003snc.1	+	2	852	c.842A>G	c.(841-843)gAg>gGg	p.E281G	FOXK1_uc003sna.1_Missense_Mutation_p.E118G|FOXK1_uc003snb.1_Missense_Mutation_p.E281G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	281					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTGGCAGCAGAGTTTGCAGCA	0.657000														32			15		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803699	54803699	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54803699C>T	uc002qfd.3	-	2	217	c.125G>A	c.(124-126)gGg>gAg	p.G42E	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.G42E	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	42	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACAGGACTCCCTTGGGTGAT	0.547000														4			101		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91549210	91549210	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:91549210C>T	uc003hsv.4	+	5	2099	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Nonsense_Mutation_p.Q587*	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	587								p.D586D(1)		NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GGACGTTGATCAAGAAGCCAG	0.433000														29			17		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551944	100551944	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100551944C>T	uc003uxl.1	+	0	1195	c.395C>T	c.(394-396)aCc>aTc	p.T132I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTTAGTACCATCATCTGG	0.423000														623			176		0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6629302	6629303	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6629302_6629303AC>TT	uc001mee.3	+	2	251_252	c.116_117AC>TT	c.(115-117)cac>cTT	p.H39L	ILK_uc001mef.3_Missense_Mutation_p.H39L|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Missense_Mutation_p.H39L|ILK_uc001meh.3_Missense_Mutation_p.H39L	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	39	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TCCCCCTTGCACTGGGCCTGCC	0.559000														21			26		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116289864	116289864	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:116289864T>G	uc003pwi.1	-	2	952	c.505A>C	c.(505-507)Aga>Cga	p.R169R		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	169	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TCATCCAGTCTTTTAATTCTG	0.378000														50			4		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435678	158435678	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158435678C>T	uc010pij.2	+	0	327	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCTTTGGCTCCTCTCACTCCT	0.517000														84			70		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575605	179575605	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179575605C>T	uc021vsy.1	-	94	24712	c.24487G>A	c.(24487-24489)Gat>Aat	p.D8163N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D4824N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9090	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A8163V(1)		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)			ACCACAGCATCCACAGGGGCA	0.507000														45			21		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132525	59132525	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59132525C>T	uc010rks.2	+	0	594	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTGTACAGGTCATGACTGCTA	0.408000														58			59		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266305	43266305	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43266305C>T	uc021yzt.1	+	0	308	c.209C>T	c.(208-210)cCc>cTc	p.P70L	SLC22A7_uc010jyl.1_Missense_Mutation_p.P70L|SLC22A7_uc003ous.3_Missense_Mutation_p.P70L|SLC22A7_uc003out.3_Missense_Mutation_p.P70L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	70						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCCCATCTTCCCCGGGAGCCT	0.662000														27			20		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79974808	79974808	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79974808A>G	uc003kgz.3	+	7	1489	c.1236A>G	c.(1234-1236)tcA>tcG	p.S412S		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	412					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTTCTCGTTCAGAGCTAGAAA	0.493000								Mismatch excision repair (MMR)						70			7		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869887	108869887	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:108869887G>A	uc010ywo.2	+	2	388	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	130						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATCTGGAAAGAAAACTGCAA	0.348000														13			20		0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63978601	63978601	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:63978601G>A	uc003xux.2	-	2	446	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	138	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GCTCGGATGTGATTAGACTTA	0.368000														29			15		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049419	23049419	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23049419C>T	uc003xda.3	-	9	1301	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	399	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|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)		GCTGTACCAGCTCTGACCACA	0.527000														63			42		0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838675	155838675	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:155838675G>A	uc003far.2	+	1	339	c.275_splice	c.e1+1	p.R92_splice	KCNAB1_uc011bon.1_Splice_Site_p.R92_splice	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	92						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)			ATGCCGCACAGGTAAGCTGCC	0.577000														49			13		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114360	10114360	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10114360G>A	uc002mmq.1	-	5	816	c.730C>T	c.(730-732)Cct>Tct	p.P244S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	244	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCCGCCGAGGACGAGGGGTT	0.582000														42			12		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063414	73063414	+	RNA	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73063414A>T	uc004ebm.1	-	0		c.9175T>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTTAGTCTAAAAGAAGAGGTG	0.368000														15			17		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47535813	47535813	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47535813G>A	uc002zia.1	+	5	911	c.829G>A	c.(829-831)Gga>Aga	p.G277R	COL6A2_uc002zhz.1_Missense_Mutation_p.G277R|COL6A2_uc002zhy.1_Missense_Mutation_p.G277R	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	277	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGTGAGCCGGGAGAGCCTGG	0.657000														41			7		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513686	99513686	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:99513686G>A	uc003dti.1	+	2	1072	c.944G>A	c.(943-945)gGa>gAa	p.G315E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G314E|COL8A1_uc003dth.1_Missense_Mutation_p.G314E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	314	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGATACCCGGAATTGGAAAG	0.657000														2			32		0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93619383	93619383	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:93619383A>G	uc001khp.3	+	24	3556	c.3259A>G	c.(3259-3261)Aga>Gga	p.R1087G		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	1087	PARP catalytic.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCACAAAGACAGATCTTGTTA	0.368000														25			4		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131105503	131105503	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131105503T>C	uc004but.3	+	1	377	c.92T>C	c.(91-93)tTc>tCc	p.F31S	SLC27A4_uc004buu.3_Silent_p.V58V	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	31					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCCTGTTGTTCCTCTACTTG	0.592000														45			10		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035712	17035712	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17035712G>T	uc010rcu.1	-	1	138	c.123C>A	c.(121-123)cgC>cgA	p.R41R	PLEKHA7_uc001mmo.3_Silent_p.R41R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	41	WW 1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTCCCCGGTGCGCGGATGCA	0.761000														12			22		2.39556e-15	2.41178e-15	1	1	0
METTL14	57721	broad.mit.edu	37	4	119631261	119631261	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119631261T>G	uc003icf.3	+	10	1291	c.1175T>G	c.(1174-1176)aTt>aGt	p.I392S		NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	Homo sapiens methyltransferase like 14 (METTL14), mRNA.	392						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACAGAAGAAATTGAGAGACTT	0.468000														65			21		0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36623914	36623914	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36623914A>G	uc011amm.2	-	5	929	c.886T>C	c.(886-888)Ttg>Ctg	p.L296L	APOL2_uc003aoz.3_Silent_p.L184L|APOL2_uc003apa.3_Silent_p.L184L	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	184					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CTTTGGTCCAAGTTGCGGGCT	0.522000														79			30		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110603659	110603659	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110603659T>C	uc001dzb.3	-	3	816	c.728A>G	c.(727-729)cAg>cGg	p.Q243R		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	243						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)		CAGGGAGTTCTGCAGCTGAAA	0.597000														8			9		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4708936	4708936	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4708936T>G	uc009zeh.1	+	9	1150	c.1108T>G	c.(1108-1110)Tgt>Ggt	p.C370G	DYRK4_uc001qmx.3_Missense_Mutation_p.C255G|DYRK4_uc001qmy.2_Missense_Mutation_p.C255G|DYRK4_uc021qtq.1_Missense_Mutation_p.C109G	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	255	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGGATCAAGCTGTTATGAACA	0.418000														77			5		0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109547664	109547664	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:109547664C>T	uc001tnz.2	+	6	918	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	UNG_uc001toa.2_Missense_Mutation_p.P269S	NM_080911	NP_550433	P13051	UNG_HUMAN	Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA.	278					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GACGGCTCATCCCTCCCCTTT	0.408000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM					5			66		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														10			3		0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139181011	139181011	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:139181011G>A	uc003eth.3	-	1	246	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	65					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CTCCAACAGTGAAATCCACAT	0.443000														4			113		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131073123	131073123	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131073123T>G	uc003yta.2	-	27	3122	c.2894A>C	c.(2893-2895)aAa>aCa	p.K965T	ASAP1_uc003ysz.2_Missense_Mutation_p.K776T|ASAP1_uc011liw.2_Missense_Mutation_p.K958T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	965	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGCTGTGGTTTGGGGGGCAG	0.602000														184			8		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2112911	2112911	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2112911T>G	uc002lva.3	-	23	2958	c.2735A>C	c.(2734-2736)aAg>aCg	p.K912T	AP3D1_uc010dsv.3_5'Flank|AP3D1_uc002luy.3_Missense_Mutation_p.K809T|AP3D1_uc002luz.3_Intron	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	872					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCCGTCTTGGCGTCCTC	0.662000														50			14		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587489	70587489	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70587489G>A	uc001dep.3	+	24	4563	c.4533G>A	c.(4531-4533)atG>atA	p.M1511I	LRRC7_uc009wbg.3_Missense_Mutation_p.M795I|LRRC7_uc001deq.3_Missense_Mutation_p.M705I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1511	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGTACATATGGAACATGAAA	0.308000														55			14		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761734	130761734	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130761734G>A	uc003ysr.3	-	12	2133	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	417						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCTTCTCCATGGAACAGGCCA	0.522000														33			29		0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29139932	29139932	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29139932T>G	uc003aea.3	+	1	340	c.299T>G	c.(298-300)cTt>cGt	p.L100R	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	100	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CTGCAGCGTCTTGTCCACCCA	0.478000														183			9		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350574	24350574	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24350574G>A	uc003xeb.3	+	15	1787	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K	ADAM7_uc003xec.3_Silent_p.K330K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	558	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)		GATGTGGAAAGATCTACTGCA	0.448000														25			20		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72493731	72493731	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:72493731C>T	uc001jrg.3	+	7	1308	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	ADAMTS14_uc001jrh.3_Silent_p.F433F|ADAMTS14_uc001jri.1_5'UTR	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	433	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGGCTGCCTTCCACCGCTTCC	0.642000														2			50		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373082	373082	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:373082C>T	uc001lpb.3	+	4	510	c.501C>T	c.(499-501)ctC>ctT	p.L167L		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	167						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTATGGACTCCGTATTTTTG	0.652000														47			36		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	431722	431722	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:431722A>C	uc001qif.1	-	16	2650	c.2287T>G	c.(2287-2289)Ttg>Gtg	p.L763V	KDM5A_uc010sdn.1_Missense_Mutation_p.L722V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	763					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATTACTCGCAATTCAATCAAA	0.378000			T	NUP98	AML									62			25		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778759	110778759	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:110778759T>G	uc001tqk.4	+	13	2620	c.2057T>G	c.(2056-2058)aTc>aGc	p.I686S	ATP2A2_uc001tql.4_Missense_Mutation_p.I686S|ATP2A2_uc021rdt.1_Missense_Mutation_p.I534S	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	686					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding	p.I686I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAGTCTAAAATCGTAGAATTT	0.493000														27			4		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423254	107423254	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:107423254G>A	uc002tdq.3	-	5	1589	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ST6GAL2_uc002tdr.3_Silent_p.L490L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	490					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCTGCACCAGGAGCTTCTCAT	0.632000														42			14		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705477	112705477	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:112705477C>T	uc004bei.2	+	6	1200	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	PALM2-AKAP2_uc004beg.3_Silent_p.I304I|PALM2-AKAP2_uc004beh.4_Silent_p.I336I|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.R336K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGAAACCATCAAGGCTGAAT	0.473000														62			27		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780405	91780405	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91780405C>T	uc010aty.3	-	14	1909	c.1755G>A	c.(1753-1755)atG>atA	p.M585I		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	585					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCACGTCTTTCATGCGGGCCT	0.587000														22			15		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483902	128483902	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128483902C>T	uc003vnz.4	+	18	3073	c.2864C>T	c.(2863-2865)cCc>cTc	p.P955L	FLNC_uc003voa.4_Missense_Mutation_p.P955L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	955					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P955H(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCAAGAGCCCCTTTGTGGTG	0.552000														44			28		0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18171783	18171783	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18171783T>G	uc002zmw.3	+	3	479	c.261T>G	c.(259-261)acT>acG	p.T87T	BCL2L13_uc002zmu.3_Silent_p.T87T|BCL2L13_uc002zmx.3_Intron|BCL2L13_uc002zmy.3_Silent_p.T87T|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_5'UTR|BCL2L13_uc002zmz.3_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	87					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACCGTCACACTTCTCCAGTGT	0.448000														68			14		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444260	20444260	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20444260C>T	uc010tkx.2	+	0	583	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P195H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTTGTGGTCCTAATAAGGT	0.438000														54			66		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90429841	90429841	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:90429841A>G	uc001xxy.3	+	2	682	c.383A>G	c.(382-384)gAa>gGa	p.E128G	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.E128G|TDP1_uc010atn.3_Missense_Mutation_p.E128G|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	128					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CAAAGAACTGAAAATCATGGC	0.532000								Repair of DNA-protein crosslinks						51			14		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73055604	73055604	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:73055604T>G	uc001jro.3	+	13	2663	c.2212T>G	c.(2212-2214)Ttg>Gtg	p.L738V	UNC5B_uc001jrp.3_Missense_Mutation_p.L727V	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	738					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGGCGGATACTTGGTGGAGGA	0.617000														20			9		0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580355	37580355	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:37580355G>A	uc002xjg.3	+	3	1081	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	317					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTCACCAACCGAAAACCACAG	0.572000														75			63		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199591	117199591	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117199591C>T	uc003vjd.3	+	10	1598	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	489	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGAAGAATTTCATTCTGTTCT	0.368000									Cystic Fibrosis					48			54		0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2641453	2641453	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:2641453T>C	uc003zhk.1	+	3	799	c.402T>C	c.(400-402)tgT>tgC	p.C134C	VLDLR_uc003zhl.1_Silent_p.C134C|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	134	LDL-receptor class A 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCTGGAGATGTGATGGTGAAA	0.428000														74			24		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128986804	128986804	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:128986804A>C	uc003els.3	+	15	1669	c.1569A>C	c.(1567-1569)gaA>gaC	p.E523D	COPG1_uc010htb.3_Missense_Mutation_p.E429D	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	523					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										ATGACAATGAAGTAAGGGACC	0.527000														51			6		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736441	27736441	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27736441C>A	uc001bof.2	-	7	1309	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	362					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GGAGGGGCAGCAAAATCAGGG	0.622000														54			51		2.43468e-25	2.45472e-25	1	1	0
RASAL3	64926	broad.mit.edu	37	19	15562670	15562670	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15562670G>A	uc002nbe.2	-	17	3058	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	WIZ_uc002nbb.4_5'Flank|RASAL3_uc002nbd.3_3'UTR	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	991					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						AGACCCCCGCGTCCTTGGAGA	0.607000														82			4		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028921	68028922	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68028921_68028922CC>TT	uc001xjl.1	+	6	715_716	c.573_574CC>TT	c.(571-576)gtccct>gtTTct	p.P192S		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	192						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGATTCTGTCCCTTCAGAGCC	0.589000														13			5		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45620618	45620618	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45620618C>T	uc001wwd.4	+	4	1036	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	FANCM_uc001wwc.2_Missense_Mutation_p.R313C|FANCM_uc010anf.3_Missense_Mutation_p.R287C	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	313					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCATTTGCTCGTTCTTTGAT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					17			25		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65308743	65308743	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65308743T>C	uc001oej.3	-	19	3016	c.2747A>G	c.(2746-2748)aAg>aGg	p.K916R	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Missense_Mutation_p.K346R|LTBP3_uc010roi.2_Missense_Mutation_p.K799R|LTBP3_uc001oei.3_Missense_Mutation_p.K916R|LTBP3_uc010roj.2_Missense_Mutation_p.K617R|LTBP3_uc010rok.1_Missense_Mutation_p.K827R	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	916						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACTCCTTCTTGTGGTGGGG	0.632000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		111			10		0	0	1	0	0
C14orf109	26175	broad.mit.edu	37	14	93652630	93652630	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93652630T>G	uc001ybk.4	+	1	108	c.10T>G	c.(10-12)Ttc>Gtc	p.F4V	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.F42V|C14orf109_uc021sax.1_Missense_Mutation_p.F4V	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	36						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		AATGATGAACTTCCGTCAGCG	0.408000														126			35		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780589	94780589	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94780589G>A	uc001ycv.3	-	1	501	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	133					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CTGCCATCAAGAAACAAGGCA	0.502000														34			38		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190355	58190355	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:58190355G>A	uc010rkg.2	-	0	432	c.380C>T	c.(379-381)cCc>cTc	p.P127L		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGTGTAGGGGTTTGCACAC	0.527000														36			30		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847108	40847108	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40847108C>T	uc002yya.3	+	2	522	c.468C>T	c.(466-468)tcC>tcT	p.S156S	SH3BGR_uc002yxz.3_Silent_p.S45S	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	156					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTATTTATTCCTTCCTTGGTT	0.373000														22			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369711	126369711	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126369711C>T	uc003ifj.4	+	8	7540	c.7540C>T	c.(7540-7542)Cac>Tac	p.H2514Y	FAT4_uc011cgp.2_Missense_Mutation_p.H812Y|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2514	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAAAATTTCACATTGACCC	0.433000														38			13		0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902261	16902261	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16902261G>A	uc003sts.3	-	3	272	c.199C>T	c.(199-201)Cac>Tac	p.H67Y		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	67						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCTCCAGGTGATGAATAACC	0.284000														34			28		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898776	28898777	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28898776_28898777GG>AA	uc002dro.1	+	7	845_846	c.661_662GG>AA	c.(661-663)ggc>AAc	p.G221N	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.G221N|ATP2A1_uc002drp.1_Missense_Mutation_p.G96N|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	221					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CAAGGCCTTGGGCATCGTGGCC	0.604000														33			15		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17440985	17440985	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17440985T>A	uc002ngf.2	-	9	1381	c.1222A>T	c.(1222-1224)Agt>Tgt	p.S408C	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	408	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCACTCACACTGACAAGCAGG	0.622000														69			21		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231632	7231632	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7231632T>G	uc003mxb.3	+	9	3792	c.3300T>G	c.(3298-3300)gcT>gcG	p.A1100A	RREB1_uc021yky.1_Silent_p.A1100A|RREB1_uc003mxc.3_Silent_p.A1100A|RREB1_uc010jnx.3_Silent_p.A1100A|RREB1_uc021ykz.1_Silent_p.A1100A|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1100					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACACCACGGCTTCAGACAGCT	0.627000														64			22		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851393	65851393	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:65851393A>C	uc001dce.1	+	7	1002	c.801_splice	c.e7-2	p.R267_splice	DNAJC6_uc001dcc.1_Splice_Site_p.R241_splice|DNAJC6_uc001dcd.1_Splice_Site_p.R210_splice|DNAJC6_uc010opc.1_Splice_Site_p.R197_splice	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	210	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTTCTGTTTCAGATACCTGGG	0.443000														45			6		0	0	1	0	0
WDR38	401551	broad.mit.edu	37	9	127619030	127619030	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127619030A>C	uc011lzo.2	+	6	694	c.638A>C	c.(637-639)aAg>aCg	p.K213T	WDR38_uc011lzn.2_Missense_Mutation_p.K202T|WDR38_uc011lzp.2_Missense_Mutation_p.K164T|WDR38_uc004box.3_Missense_Mutation_p.K213T	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	Homo sapiens WD repeat domain 38 (WDR38), mRNA.	213										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCTGGGACAAGACCATCCAC	0.602000														24			5		0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533009	22533009	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:22533009A>C	uc010kum.2	-	2	731	c.531T>G	c.(529-531)atT>atG	p.I177M	STEAP1B_uc003svh.3_Missense_Mutation_p.I158M	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	158						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						ACAGAGTATAAATTGCATGCA	0.383000														34			9		0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121755208	121755208	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:121755208G>A	uc003vka.3	-	7	1059	c.963C>T	c.(961-963)acC>acT	p.T321T	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.T321T|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	321	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.L320L(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CATCTTGGCGGGTTAGGAGGC	0.483000														34			39		0	0	1	0	0
CXCL3	2921	broad.mit.edu	37	4	74904240	74904240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:74904240C>T	uc003hhl.3	-	0	251	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_002090	NP_002081	P19876	CXCL3_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 3 (CXCL3), mRNA.	30					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			TGCTGCGCGCCGGCTGGCGGC	0.771000														0			8		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10464893	10464893	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10464893G>A	uc002moc.4	-	19	3111	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	TYK2_uc010dxe.3_Silent_p.V726V	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	911	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGTACAAGCTGACCTTGCCGA	0.662000														54			65		0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22211571	22211571	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:22211571A>C	uc001rfm.3	+	3	709	c.630A>C	c.(628-630)gaA>gaC	p.E210D	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	210					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GGGATGGAGAATTATATGAAA	0.388000														68			31		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39003037	39003037	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39003037T>C	uc002oit.3	+	62	9516	c.9386T>C	c.(9385-9387)cTc>cCc	p.L3129P	RYR1_uc002oiu.3_Missense_Mutation_p.L3129P|RYR1_uc002oiv.1_Missense_Mutation_p.L49P|RYR1_uc010xuf.1_Missense_Mutation_p.L49P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3129					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCCAGAACCTCACCTACACC	0.627000														41			13		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50667868	50667868	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50667868G>A	uc003bkb.1	-	3	1767	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	TUBGCP6_uc010har.1_Silent_p.L419L|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	419					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAAGAGTCCAGGACGGGCTGC	0.577000														19			16		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021613	132021613	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132021613C>T	uc002tsn.2	+	14	2637	c.2585C>T	c.(2584-2586)aCt>aTt	p.T862I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.T462I|POTEE_uc002tsl.2_Missense_Mutation_p.T444I|POTEE_uc010fmy.1_Missense_Mutation_p.T326I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	862	Actin-like.						ATP binding										GTCACCCACACTGTGCCCATC	0.627000														41			53		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60581501	60581501	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:60581501T>G	uc001xer.4	+	1	593	c.71T>G	c.(70-72)cTt>cGt	p.L24R	C14orf135_uc001xeq.2_Missense_Mutation_p.L24R	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	258						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CTGTGGGCACTTGGGACTCTG	0.428000														102			45		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491164	100491164	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:100491164G>A	uc001tgq.3	-	5	877	c.648C>T	c.(646-648)atC>atT	p.I216I	UHRF1BP1L_uc001tgr.3_Silent_p.I216I	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	216										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTGACTCTGATTTTTGATT	0.338000														0			9		0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57626290	57626290	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57626290C>T	uc001snf.2	+	5	855	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	SHMT2_uc001snh.2_Missense_Mutation_p.R219W|SHMT2_uc009zpk.2_Missense_Mutation_p.R207W|SHMT2_uc001sng.2_Missense_Mutation_p.R113W|SHMT2_uc001sni.2_Missense_Mutation_p.R196W|SHMT2_uc010srg.2_Missense_Mutation_p.R226W|SHMT2_uc010srh.2_Missense_Mutation_p.R196W|SHMT2_uc001snj.2_Missense_Mutation_p.R121W|SHMT2_uc010sri.2_Missense_Mutation_p.R196W|SHMT2_uc001snk.2_Missense_Mutation_p.R121W|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCGACTTTTCCGGCCACGGCT	0.592000														56			47		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559655	48559655	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:48559655G>A	uc003toq.2	+	52	13840	c.13816G>A	c.(13816-13818)Gat>Aat	p.D4606N	ABCA13_uc010kys.1_Missense_Mutation_p.D1681N|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.D336N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4606					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAATATCTATGATGTCCTCAA	0.333000														10			8		0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12791287	12791287	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12791287T>C	uc011auv.1	-	1	260	c.93A>G	c.(91-93)caA>caG	p.Q31Q	TMEM40_uc003bxg.1_Silent_p.Q15Q|TMEM40_uc003bxh.1_Silent_p.Q15Q	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	15						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CTCTGTGGACTTGACTGTTGT	0.453000														54			3		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433289	55433289	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55433289A>G	uc010rik.2	+	0	647	c.647A>G	c.(646-648)tAc>tGc	p.Y216C		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y216F(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATTGCGTCCTACACGGTCATC	0.512000														71			17		0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108243080	108243080	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:108243080G>A	uc003psc.4	-	3	642	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	SEC63_uc003psb.4_5'UTR	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	125	J.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GACAGCAAACGATATTGTTTT	0.348000														4			34		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76785632	76785632	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:76785632G>A	uc003hix.3	-	15	2326	c.1969C>T	c.(1969-1971)Cta>Tta	p.L657L	PPEF2_uc003hiy.3_Non-coding_Transcript	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	657	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGGTCTCTAGGTTGGATCGG	0.353000														8			20		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872983	15872983	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15872983C>T	uc002yju.1	-	5	717	c.635G>A	c.(634-636)gGa>gAa	p.G212E	SAMSN1_uc010gky.1_Missense_Mutation_p.G44E|SAMSN1_uc002yjv.1_Missense_Mutation_p.G280E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	212	SH3.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.V211V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTGAAGTTTCCCACTTTATT	0.388000														104			21		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109923	43109923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43109923C>T	uc011dve.1	+	12	1999	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	PTK7_uc003oub.1_Nonsense_Mutation_p.Q645*|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Nonsense_Mutation_p.Q605*|PTK7_uc003oue.1_Nonsense_Mutation_p.Q515*|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	645	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCACATCTTCCAGAATGGCTC	0.642000														62			42		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763129	23763129	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23763129T>G	uc001bha.2	-	15	1619	c.1495A>C	c.(1495-1497)Aac>Cac	p.N499H	ASAP3_uc001bgy.1_Missense_Mutation_p.N3H|ASAP3_uc010odz.1_Missense_Mutation_p.N368H|ASAP3_uc010oea.1_Missense_Mutation_p.N490H	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	499	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AAGCTCGTGTTTCCCATGTTC	0.577000														91			6		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90143840	90143840	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:90143840A>C	uc002boe.3	+	8	2077	c.2077A>C	c.(2077-2079)Agt>Cgt	p.S693R	C15orf42_uc021sug.1_Missense_Mutation_p.S692R	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	693					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCAAGTAAAAAGTAGTCTCTT	0.284000														6			3		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557798	157557798	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157557798C>T	uc001fqw.3	-	3	555	c.419G>A	c.(418-420)gGa>gAa	p.G140E	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	140	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAGAATGTTTCCATTCCAAGT	0.393000														10			8		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147742	100147742	+	Silent	SNP	G	A	A	rs145473445		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:100147742G>A	uc003knk.3	-	4	1217	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	297					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AATCCATACAGGTGAATTTCA	0.388000														17			16		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238301	34238301	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34238301C>T	uc001bxm.1	-	12	1892	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	CSMD2_uc001bxn.1_Missense_Mutation_p.R532K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	532	Sushi 3.					integral to membrane|plasma membrane	protein binding	p.P572S(1)		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)				GGAGCCTTCCCTCCGGCCATA	0.522000														58			72		0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9305129	9305129	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9305129G>A	uc001mhm.3	-	6	1045	c.718C>T	c.(718-720)Cct>Tct	p.P240S	TMEM41B_uc001mhn.2_Missense_Mutation_p.P240S	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	240						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		ACAAAAGAAGGAGGTGCGACA	0.338000														10			12		0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167038168	167038168	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167038168A>G	uc001gea.1	-	2	750	c.406T>C	c.(406-408)Ttg>Ctg	p.L136L		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	136						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCGAGGACCAACAGGCGGACA	0.567000														27			6		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542374	10542374	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10542374C>T	uc002gmq.2	-	24	3323	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1079					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGAGCCTTTCGTCCAGCTGT	0.423000														3			65		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410677	153410677	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153410677G>A	uc010pdx.2	-	1	240	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACTGAGGAAGTTGGGGA	0.522000														26			20		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005998	50005998	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50005998A>C	uc003cyc.3	+	2	1388	c.1140A>C	c.(1138-1140)tcA>tcC	p.S380S	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	380					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGCAGAGTTCAGATGCTGGTC	0.483000														42			17		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149753849	149753849	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149753849C>T	uc003lry.3	+	7	1091	c.983C>T	c.(982-984)tCc>tTc	p.S328F	TCOF1_uc003lrw.3_Missense_Mutation_p.S328F|TCOF1_uc003lrz.3_Missense_Mutation_p.S328F|TCOF1_uc011dch.2_Missense_Mutation_p.S328F|TCOF1_uc003lrx.3_Missense_Mutation_p.S251F|TCOF1_uc003lsa.3_Missense_Mutation_p.S251F|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	328					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTAGCCTCCCAGACCAAG	0.632000														4			5		0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63831840	63831840	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:63831840A>C	uc010ypv.2	+	5	740	c.563A>C	c.(562-564)aAa>aCa	p.K188T	MDH1_uc002scj.2_Missense_Mutation_p.K170T|MDH1_uc010ypw.2_Missense_Mutation_p.K81T	NM_001199111	NP_001186040	P40925	MDHC_HUMAN	Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA.	170					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	ATTGCTCTTAAACTTGGTGTG	0.353000														34			7		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66481867	66481867	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66481867G>A	uc001ojd.3	-	4	567	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	165	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTCCACACTGATGTCTTGGA	0.537000														36			26		0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172581372	172581372	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:172581372A>C	uc003mci.4	+	3	458	c.354A>C	c.(352-354)caA>caC	p.Q118H	BNIP1_uc003mcj.4_Missense_Mutation_p.Q75H|BNIP1_uc003mck.4_Missense_Mutation_p.Q118H|BNIP1_uc003mcl.4_Missense_Mutation_p.Q75H|BNIP1_uc021yhw.1_5'UTR	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	75					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGAAACAACTTCTACTCC	0.458000														11			5		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44137169	44137169	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44137169C>T	uc003owt.1	+	2	278	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	80	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGAGCTCTTCGAGGACCCCT	0.587000														16			14		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436218	27436218	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27436218G>A	uc001bnm.3	-	2	1490	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC9A1_uc010ofk.2_5'UTR|SLC9A1_uc001bnn.2_Silent_p.I288I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	288					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGATGTCCACGATGCCCACGT	0.632000														162			30		0	0	1	0	0
D21847	0	broad.mit.edu	37	14	22090560	22090560	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22090560G>A	uc001wbi.2	+	1	212	c.199G>A	c.(199-201)Gat>Aat	p.D67N						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		CCAGCAACATGATGGCGGAGC	0.483000														95			28		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67197710	67197710	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67197710T>G	uc010dfa.1	-	10	1985	c.1106A>C	c.(1105-1107)aAt>aCt	p.N369T	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	369					transport	integral to membrane	ATP binding|ATPase activity	p.I368V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGCTCAGGATTTATTTCATT	0.358000														27			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413985	105413985	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105413985T>G	uc010axc.1	-	6	7923	c.7803A>C	c.(7801-7803)gaA>gaC	p.E2601D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E2501D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2601						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCTGTCACTTCCGCCTTGG	0.617000														171			61		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20149278	20149278	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:20149278T>C	uc002gwq.3	+	7	2501	c.2391T>C	c.(2389-2391)gcT>gcC	p.A797A	SPECC1_uc002gws.3_Silent_p.A797A|SPECC1_uc002gwv.3_Silent_p.A716A|SPECC1_uc010vzf.2_Silent_p.A137A	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	797						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGGTCGATGCTGCTGGTCGGT	0.507000														47			5		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1630016	1630016	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1630016C>T	uc002wfm.1	-	1	177	c.112G>A	c.(112-114)Gag>Aag	p.E38K	SIRPG_uc002wfn.1_Missense_Mutation_p.E38K|SIRPG_uc002wfo.1_Missense_Mutation_p.E38K	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	38	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGGAGCTTCTCAGGCTGAATC	0.498000														50			14		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500928	118500928	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:118500928T>A	uc010jcl.1	+	20	5104	c.4923T>A	c.(4921-4923)atT>atA	p.I1641I	DMXL1_uc003ksd.2_Silent_p.I1641I|DMXL1_uc021ycw.1_Silent_p.I1468I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGCTGCCATTTTTTACCTTG	0.299000														12			10		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85406290	85406290	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85406290A>C	uc010rth.2	-	17	3142	c.2753T>G	c.(2752-2754)aTt>aGt	p.I918S	SYTL2_uc010rtg.2_Missense_Mutation_p.I919S|SYTL2_uc010rti.2_Missense_Mutation_p.I894S|SYTL2_uc010rtj.2_Missense_Mutation_p.I886S|SYTL2_uc001pav.3_Missense_Mutation_p.I360S|SYTL2_uc010rte.2_Missense_Mutation_p.I320S|SYTL2_uc001pax.3_Missense_Mutation_p.I360S|SYTL2_uc001paz.3_Missense_Mutation_p.I239S|SYTL2_uc001pay.3_Missense_Mutation_p.I349S|SYTL2_uc001paw.3_Missense_Mutation_p.I320S|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Missense_Mutation_p.I1216S|SYTL2_uc001pbb.3_Missense_Mutation_p.I1256S|SYTL2_uc001pbc.3_Missense_Mutation_p.I1240S|SYTL2_uc010rtf.2_Missense_Mutation_p.I736S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	918					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTTGCTTCAATCCAAGTATT	0.448000														49			6		0	0	1	0	0
Mir_633	0	broad.mit.edu	37	17	61021670	61021670	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:61021670G>A	uc021ubj.1	+	0		c.95G>A								Rfam model RF01028 hit found at contig region AC005972.1/112757-112854																		ttgttgtgaggataaaaaaaa	0.274000														5			5		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111701243	111701243	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111701243T>C	uc003puy.4	-	10	1737	c.1396A>G	c.(1396-1398)Agt>Ggt	p.S466G	REV3L_uc003pux.4_Missense_Mutation_p.S388G|REV3L_uc003puz.4_Missense_Mutation_p.S388G	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	466					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATCACCAAACTAAGCTCCATT	0.343000								DNA polymerases (catalytic subunits)						81			13		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74328430	74328430	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74328430G>A	uc010wtb.1	-	3	289	c.68C>T	c.(67-69)cCc>cTc	p.P23L	PRPSAP1_uc010wta.1_Missense_Mutation_p.P126L	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	97					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGGGAAGTAGGGGATGACCCC	0.517000														29			75		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76669404	76669404	+	RNA	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76669404T>G	uc011kgn.1	+	6		c.1232T>G			DTX2P1-UPK3BP1-PMS2P11_uc003ufy.2_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		GCCACTAATGTTGGTAAGTTT	0.398000														436			6		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963831	123963831	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:123963831A>G	uc022bag.1	+	0	81	c.81A>G	c.(79-81)gtA>gtG	p.V27V	ZHX2_uc003ypk.1_Silent_p.V27V	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	27						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGAGGAAGTAGACAGGGCCA	0.488000														22			5		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298746	158298746	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158298746A>C	uc001frx.3	-	4	1053	c.945T>G	c.(943-945)ctT>ctG	p.L315L	CD1B_uc001frw.3_Silent_p.L260L	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	315					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGCATAGCAAAAGGAGCAAGG	0.423000														68			4		0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371360	34371360	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:34371360C>T	uc003zue.4	-	2	1746	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	528					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AACCCCAGGTCGTAGCCCCAC	0.637000														11			12		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41002292	41002292	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41002292A>C	uc002ibu.3	+	3	2233	c.2198A>C	c.(2197-2199)aAt>aCt	p.N733T	AOC2_uc002ibt.3_Missense_Mutation_p.N706T|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	733					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGCAGCATCAATCCTGTGGCC	0.597000														182			55		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57073746	57073746	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57073746A>C	uc021tiu.1	+	14	2982	c.2855A>C	c.(2854-2856)aAg>aCg	p.K952T	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.K757T|NLRC5_uc021tiw.1_Missense_Mutation_p.K757T|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	952					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGAGCAGAAGGGGCCCCAG	0.577000														71			7		0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796126	11796126	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11796126G>A	uc021upi.1	+	2	742	c.66G>A	c.(64-66)atG>atA	p.M22I	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TCTTACACATGAAAGAACTCA	0.363000														36			15		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53219636	53219636	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53219636C>T	uc003dgl.3	+	10	1258	c.905C>T	c.(904-906)tCa>tTa	p.S302L	PRKCD_uc003dgm.3_Missense_Mutation_p.S302L|PRKCD_uc010hmt.1_Missense_Mutation_p.S74L	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	302					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TCCCGGAGATCAGACTCAGCC	0.572000														40			66		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003530	57003530	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57003530G>A	uc001njo.3	-	0	1398	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	317						integral to plasma membrane	G-protein coupled receptor activity	p.R317H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGGCCTGGCGGAAGCGGGGG	0.602000														24			19		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368504	145368504	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145368504T>G	uc021oul.1	+	83	10517	c.10482T>G	c.(10480-10482)tgT>tgG	p.C3494W	NBPF10_uc010oye.2_Missense_Mutation_p.C853W|NBPF10_uc010oyi.2_Missense_Mutation_p.C422W|NBPF10_uc010oyj.2_Missense_Mutation_p.C210W|NBPF10_uc010oyl.2_Missense_Mutation_p.C210W	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3494										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGATAGATGTTATTCGACTC	0.463000														527			31		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74205643	74205643	+	Missense_Mutation	SNP	G	A	A	rs150942373		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74205643G>A	uc010tud.1	-	0	1316	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	C14orf43_uc001xot.3_Missense_Mutation_p.P357S|C14orf43_uc001xou.3_Missense_Mutation_p.P357S|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	357	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AGGGCGCTGGGAGGCAGGATA	0.697000														28			16		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712406	6712406	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6712406C>T	uc002mfm.3	-	10	1193	c.1131G>A	c.(1129-1131)acG>acA	p.T377T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	377					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CATCAGGGTTCGTCACGAACA	0.647000														38			28		0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056743	28056743	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28056743A>C	uc021yro.1	+	3	1780	c.953A>C	c.(952-954)aAa>aCa	p.K318T	ZNF165_uc003nkh.3_Missense_Mutation_p.K318T|ZNF165_uc003nki.4_Missense_Mutation_p.K318T|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	318					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGAGAAAAAAATCACCAA	0.353000														32			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222201	140222201	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140222201C>T	uc003lhs.2	+	0	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S432L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.632000														58			41		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278199	21278199	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21278199G>A	uc003zou.1	-	0		c.364C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		TCACAGCCAGGATGGAGTCCA	0.448000														54			67		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4014112	4014112	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4014112T>G	uc003smx.3	+	12	2068	c.1929T>G	c.(1927-1929)ggT>ggG	p.G643G		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	643	Ig-like C2-type 6.				cell adhesion	integral to membrane		p.G643S(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGACATCGGTGACTACAGCT	0.567000														48			18		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17928152	17928152	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:17928152T>G	uc002wqc.3	-	10	1142	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Missense_Mutation_p.Q352H|SNX5_uc002wqe.3_Missense_Mutation_p.Q247H|SNX5_uc010zrt.1_Missense_Mutation_p.Q352H	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	352	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						ATTCGGAAAGTTGTTCAAATT	0.398000														81			10		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259623	16259623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:16259623C>T	uc002den.4	-	22	3200	c.3163G>A	c.(3163-3165)Gtt>Att	p.V1055I	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1055	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCACGTCAACCGTGTCTGTC	0.587000														37			25		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465987	160465987	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160465987C>T	uc001fwe.2	-	1	316	c.246G>A	c.(244-246)caG>caA	p.Q82Q	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Silent_p.Q82Q|SLAMF6_uc010pjh.2_Silent_p.Q33Q|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Silent_p.Q33Q	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	82						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCGCTTTCCCTGTTTCGGAT	0.463000														64			61		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343846	248343846	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248343846C>T	uc010pzf.2	+	0	559	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			CCTACTAATCCTCTCATGCAA	0.408000														136			124		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139257939	139257939	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:139257939G>A	uc003vvf.4	-	14	3602	c.3331C>T	c.(3331-3333)Ctg>Ttg	p.L1111L	HIPK2_uc003vvd.4_Silent_p.L1084L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1111	Autoinhibitory domain (AID).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTGGAGCCCAGGGCCGCCGGC	0.721000														22			28		0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11728653	11728653	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11728653A>T	uc002msk.2	+	3	1543	c.1335A>T	c.(1333-1335)aaA>aaT	p.K445N		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGGAGAGAAACCCTATGAGA	0.423000														77			13		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300629	158300629	+	Silent	SNP	G	A	A	rs150676728		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158300629G>A	uc001frx.3	-	1	393	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CD1B_uc001frw.3_Silent_p.F95F|CD1B_uc010pic.1_Silent_p.F95F	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	95					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTTCTCGAGCGAATCCAAAGA	0.443000														202			156		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785182	8785182	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8785182C>T	uc002glt.3	-	15	2289	c.2222G>A	c.(2221-2223)cGa>cAa	p.R741Q	PIK3R5_uc010vuz.2_Missense_Mutation_p.R741Q|PIK3R5_uc021tqc.1_Missense_Mutation_p.R355Q|PIK3R5_uc010cob.2_Missense_Mutation_p.R355Q|PIK3R5_uc010coa.2_Missense_Mutation_p.R355Q|PIK3R5_uc002glu.4_Missense_Mutation_p.R355Q	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	741	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCAGCGACTTCGTCCACTGAT	0.612000														1			31		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108309157	108309157	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:108309157G>A	uc001dvk.1	-	7	787	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	VAV3_uc010ouw.1_Missense_Mutation_p.H245Y|VAV3_uc001dvl.1_Missense_Mutation_p.H69Y|VAV3_uc010oux.1_Missense_Mutation_p.H245Y	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	245	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGGTTCCGATGAAGTTTTACA	0.323000														11			8		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441548	99441548	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99441548T>G	uc003yin.3	+	1	1691	c.1341T>G	c.(1339-1341)taT>taG	p.Y447*	KCNS2_uc022azb.1_Nonsense_Mutation_p.Y447*	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	447						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TAAGGGACTATTATGCCCATA	0.483000														144			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179558708	179558708	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179558708A>C	uc021vsy.1	-	114	27947	c.27722T>G	c.(27721-27723)gTt>gGt	p.V9241G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5902G|TTN_uc010fre.1_Missense_Mutation_p.V352G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10168	Ig-like 75.						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)			TTCTGAAATAACCATCTTCTT	0.383000														12			5		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480509	73480510	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73480509_73480510GG>AA	uc003xzb.3	+	1	1128_1129	c.540_541GG>AA	c.(538-543)tgggac>tgAAac	p.180_181WD>*N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	180					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAACTGTGGGACTTGCTGGA	0.460000														106			29		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539917	55539917	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55539917G>A	uc003xsd.1	+	3	3623	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1159					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAATCTTCAGAAACACTTGC	0.418000														68			23		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60899167	60899167	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60899167A>C	uc002ycq.3	-	42	5804	c.5737T>G	c.(5737-5739)Tgc>Ggc	p.C1913G	LAMA5_uc021wfw.1_Missense_Mutation_p.C1913G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1913	Laminin EGF-like 18.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGGGCAGCTGACACAG	0.692000														26			9		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536540	130536540	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130536540G>A	uc004bsc.3	-	1	386	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	SH2D3C_uc004bsb.3_5'Flank|SH2D3C_uc004bsa.3_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.R26C	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	82					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity	p.R82C(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGCTGGGGCGAGGCATGGTG	0.637000														24			12		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883968	150883968	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150883968C>T	uc003wjm.1	-	0	511	c.250G>A	c.(250-252)Gat>Aat	p.D84N	ASB10_uc003wjl.1_Missense_Mutation_p.D84N|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	84					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACGGAATCAGGAGCCAGG	0.637000														22			20		0	0	1	0	0
C16orf55	124045	broad.mit.edu	37	16	89735727	89735727	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:89735727A>C	uc010vpk.1	+	2	319	c.245A>C	c.(244-246)aAg>aCg	p.K82T	C16orf55_uc002fnw.1_Missense_Mutation_p.K81T|C16orf55_uc002fny.2_Non-coding_Transcript	NM_153025	NP_694570	Q96N06	CP055_HUMAN	Homo sapiens chromosome 16 open reading frame 55 (C16orf55), mRNA.	81										cervix(1)|kidney(1)	2		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TCCAGCAGGAAGAAAGTGGTC	0.498000														19			16		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262329	61262329	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61262329T>C	uc010xep.2	+	6	877	c.709T>C	c.(709-711)Ttg>Ctg	p.L237L	SERPINB13_uc002ljc.3_Silent_p.L228L|SERPINB13_uc002ljd.3_Silent_p.L92L|SERPINB13_uc010xeq.2_Silent_p.L49L|SERPINB13_uc010xer.2_Silent_p.L49L	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	228					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCTGGAGGACTTGCAGGCCAA	0.428000														51			6		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183655807	183655807	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183655807A>C	uc003fmg.3	-	25	3901	c.3736T>G	c.(3736-3738)Tta>Gta	p.L1246V	ABCC5_uc011bqt.2_Missense_Mutation_p.L774V|ABCC5_uc010hxl.3_Missense_Mutation_p.L1203V	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1246	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCCAGATAACTCCACCAGA	0.517000														112			18		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929976	54929976	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:54929976C>T	uc001sgc.4	+	27	3099	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	NCKAP1L_uc010sox.2_Missense_Mutation_p.S549F|NCKAP1L_uc010soy.2_Missense_Mutation_p.S957F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1007					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCAGTTTCCCTCCCACTC	0.453000														3			24		0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30469914	30469915	+	Silent	DNP	GG	AA	AA	rs114133712	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30469914_30469915GG>AA	uc003xig.3	-	4	703_704	c.450_451CC>TT	c.(448-453)gcccta>gcTTta	p.150_151AL>AL		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	150					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	p.K149R(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AGCCTAAGTAGGGCCTTCTTAT	0.421000														26			31		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91835652	91835652	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91835652G>A	uc002bqv.3	+	13	2813	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G490E	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	641					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCCATCCTGGGAAACACCATC	0.473000														53			24		0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45742854	45742854	+	Silent	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45742854C>A	uc002zek.3	+	17	1961	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	PFKL_uc002zel.3_Silent_p.P473P|PFKL_uc002zem.3_Silent_p.P60P|PFKL_uc002zen.3_Silent_p.P60P			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	473					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGACCCTGCCCAAGGGCCAGC	0.587000														42			30		3.99451e-17	4.0235e-17	1	1	0
LRWD1	222229	broad.mit.edu	37	7	102107895	102107895	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:102107895C>T	uc003uzn.3	+	3	680	c.542C>T	c.(541-543)cCc>cTc	p.P181L	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	181					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CGCTACGGGCCCGAGTCCCTC	0.617000											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			5		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962528	10962528	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10962528G>A	uc001qyx.3	-	0	240	c.147C>T	c.(145-147)atC>atT	p.I49I	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	49					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCCAAGCTGATCAGGATGA	0.403000														66			36		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56035908C>T	uc003pcs.3	-	3	891	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000														41			26		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691727	31691727	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31691727G>C	uc011doc.2	+	1	413	c.373G>C	c.(373-375)Gac>Cac	p.D125H	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Missense_Mutation_p.D125H|C6orf25_uc003nwk.3_Missense_Mutation_p.D125H|C6orf25_uc011dod.2_Missense_Mutation_p.D125H|C6orf25_uc003nwn.3_Missense_Mutation_p.D125H|C6orf25_uc011doe.2_Missense_Mutation_p.D125H|C6orf25_uc003nwo.3_Missense_Mutation_p.D125H	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	125						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CGTGCTGGGGGACAGGACCTA	0.642000														121			25		0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066535	91066535	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:91066535A>C	uc009xts.3	+	1	997	c.822A>C	c.(820-822)ttA>ttC	p.L274F	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	274					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAAGGCTTTAGAATACATAC	0.413000														59			9		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822733	54822733	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54822733G>A	uc002qfe.3	-	4	783	c.663C>T	c.(661-663)atC>atT	p.I221I	LILRA5_uc002qff.3_Silent_p.I209I|LILRA5_uc010yev.2_Silent_p.I221I|LILRA5_uc010yew.2_Silent_p.I209I|LILRA5_uc002qfg.1_Silent_p.I221I|LILRA5_uc002qfh.1_Silent_p.I209I	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	221	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATACCTGCAGGATATGCCTGC	0.582000														89			49		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52544883	52544883	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52544883T>G	uc001vfw.2	-	2	1445	c.1288A>C	c.(1288-1290)Agc>Cgc	p.S430R	ATP7B_uc001vfy.2_Missense_Mutation_p.S319R|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.S430R|ATP7B_uc010tgt.1_Missense_Mutation_p.S430R|ATP7B_uc010tgu.1_Missense_Mutation_p.S430R|ATP7B_uc010tgv.1_Missense_Mutation_p.S430R|ATP7B_uc010tgw.1_Missense_Mutation_p.S398R	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	430					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GTAGAACAGCTTTCTAGGATA	0.428000									Wilson disease					42			4		0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866309	156866309	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156866309A>C	uc003fbf.3	-	10	1901	c.1302T>G	c.(1300-1302)agT>agG	p.S434R	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.S228R|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	434					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAGGGCTTTCACTGTGACTGC	0.403000														126			10		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722110	196722110	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196722110G>A	uc002utj.4	-	43	8506	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2802	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CTTATCATATGAATCCATTGC	0.343000														14			23		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511019	56511019	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56511019G>A	uc010rjo.2	-	0	269	c.269C>T	c.(268-270)tCt>tTt	p.S90F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S90Y(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTATACACAGAGGTATACCA	0.433000														63			47		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370401	25370401	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25370401C>T	uc001upr.3	+	10	1408	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	RNF17_uc010tdd.1_Missense_Mutation_p.S315L|RNF17_uc010tde.2_Missense_Mutation_p.S456L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S395L|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	456					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATAGGAGTTCACACCTTGAT	0.323000														30			39		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927709	38927709	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38927709C>T	uc021wvy.1	-	15	3055	c.2856G>A	c.(2854-2856)gaG>gaA	p.E952E	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	952					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTCTTGTTCTCCTGATGGA	0.428000														8			23		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38813686	38813686	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38813686C>T	uc002hvc.2	-	4	642	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	KRT222_uc002hvb.2_Missense_Mutation_p.E153K|KRT222_uc010cxc.3_3'UTR	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	193						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTACATTTTCATTCTCATAC	0.303000														2			15		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702265	6702265	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6702265G>A	uc001qpo.3	-	16	2808	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	CHD4_uc001qpn.3_Nonsense_Mutation_p.Q875*|CHD4_uc001qpp.3_Nonsense_Mutation_p.Q879*	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	882	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTTAGACTGATTGTTCTTC	0.473000														36			39		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33695697	33695697	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33695697C>T	uc010edh.3	+	3	507	c.414C>T	c.(412-414)ttC>ttT	p.F138F	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	138	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCTGGATTTTCTTCCACTCAG	0.662000														71			55		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297789	139297789	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:139297789T>C	uc003etj.3	-	1	258	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Missense_Mutation_p.Q36R|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	73					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GTCGGATGTCTGCAGGGCCAG	0.577000														46			13		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74995186	74995186	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74995186C>T	uc001xqa.3	-	12	2755	c.2368_splice	c.e12+1	p.G790_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	790					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGATACCCTTGTCAGGG	0.632000														34			36		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387612	56387612	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:56387612T>G	uc010bfn.3	-	8	2314	c.2314A>C	c.(2314-2316)Aag>Cag	p.K772Q	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.K586Q	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	675					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAACTGACTTTGAATCACTG	0.373000														17			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410548	179410548	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179410548G>A	uc021vsy.1	-	292	87937	c.87712_splice	c.e292+1	p.T29238_splice	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Splice_Site_p.T22933_splice|TTN_uc021vta.1_Splice_Site_p.T22866_splice|TTN_uc021vtb.1_Splice_Site_p.T22741_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30165	Fibronectin type-III 113.						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)			AATACTTACTGAATGAGTTTC	0.378000														57			30		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3009615	3009616	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3009615_3009616GG>AA	uc010dth.3	-	12	1363_1364	c.1100_1101CC>TT	c.(1099-1101)tcc>tTT	p.S367F	TLE2_uc010xhb.2_Intron|TLE2_uc002lww.3_Missense_Mutation_p.S366F|TLE2_uc010xhc.2_Missense_Mutation_p.S244F|TLE2_uc010dti.3_Missense_Mutation_p.S380F|TLE2_uc010xhd.1_Missense_Mutation_p.S274F	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	366	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGGCACGGAGAGGTCTCC	0.658000														14			18		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316814	46316814	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:46316814T>G	uc001rox.3	-	12	4317	c.4030A>C	c.(4030-4032)Agt>Cgt	p.S1344R	SCAF11_uc001row.3_Missense_Mutation_p.S1029R	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1344					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCTGTGACTTGATGACGAA	0.473000														378			32		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139278020	139278020	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139278020A>G	uc003yuy.3	-	3	394	c.223T>C	c.(223-225)Tta>Cta	p.L75L	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	75										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCCGGTATAAGATCTGAAAG	0.488000										HNSCC(54;0.14)				38			9		0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37965985	37965985	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:37965985A>C	uc004ddx.3	+	10	1717	c.1361A>C	c.(1360-1362)aAt>aCt	p.N454T	SYTL5_uc004ddu.3_Missense_Mutation_p.N432T|SYTL5_uc004ddv.3_Missense_Mutation_p.N432T	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	432	C2 1.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AATTGCAGAAATCTGGCCATA	0.428000														20			12		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19518823	19518823	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:19518823A>C	uc001bbi.3	-	10	1257	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	418					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATGAGGAAAAGGCTGTTTAA	0.438000														101			25		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56098265	56098266	+	Missense_Mutation	DNP	TT	CA	CA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:56098265_56098266TT>CA	uc010giw.1	-	2	723_724	c.612_613AA>TG	c.(610-615)gaaaca>gaTGca	p.204_205ET>DA	CTCFL_uc010gix.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc002xym.2_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gjb.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gja.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gjc.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gjd.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gje.3_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_5'UTR|CTCFL_uc010gjh.2_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gji.2_5'UTR|CTCFL_uc010gjj.2_Missense_Mutation_p.204_205ET>DA|CTCFL_uc021wfe.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Missense_Mutation_p.204_205ET>DA|CTCFL_uc010gjl.1_Missense_Mutation_p.204_205ET>DA	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	204					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTGACATTGTTTCCACAAAAA	0.386000														111			5		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019628	75019628	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75019628G>A	uc001xqa.3	-	4	1546	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	387					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCGTGCCCATGGCCGCCCTGG	0.627000														16			7		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6058429	6058429	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:6058429C>T	uc010idb.1	-	11	2188	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E383K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E568K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E403K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E568K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E568K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	568	Mediates interaction with TYK2 and GABBR1.				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						CGCACCTTTTCCAGCAAGTCT	0.542000														42			20		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722475	14722475	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:14722475T>A	uc003zlj.3	-	0	241	c.196A>T	c.(196-198)Acc>Tcc	p.T66S		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	66					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCAGGGCTGGTGGCTACAAGG	0.547000														89			6		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34145400	34145400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:34145400C>T	uc001mvk.3	+	9	1250	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	NAT10_uc010ren.2_Nonsense_Mutation_p.Q264*	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	336						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TCTGCAATATCAGGTAGGAAA	0.448000														26			23		0	0	1	0	0
SMN2	6607	broad.mit.edu	37	5	70247809	70247809	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:70247809C>T	uc003kak.3	+	7	1039	c.876C>T	c.(874-876)tcC>tcT	p.S292S	SMA4_uc010iyh.1_Intron|SMA4_uc003jzx.2_Intron|SMN2_uc011crr.2_Silent_p.S225S|SMN2_uc003kam.3_Intron|SMN2_uc003kal.3_Silent_p.S260S|SMN2_uc003kan.3_Intron	NM_017411	NP_059107	Q16637	SMN_HUMAN	Homo sapiens survival of motor neuron 2, centromeric (SMN2), transcript variant d, mRNA.	292	Required for interaction with SYNCRIP.				cell death|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	RNA binding|protein binding						Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTCACATTCCTTAAATTAAG	0.289000														1			7		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098038	93098038	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:93098038G>A	uc003umv.2	-	7	864	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.F170F|CALCR_uc003umw.2_Silent_p.F170F	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	170					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGAAAAACACGAAAATCCCCA	0.398000														22			14		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53600725	53600725	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:53600725A>G	uc004dsp.3	-	46	6699	c.6297T>C	c.(6295-6297)tcT>tcC	p.S2099S	HUWE1_uc004dsn.3_Silent_p.S923S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2099					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCAGTTCAGACTGGCCCA	0.468000														32			13		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119656	42119656	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42119656C>T	uc003gwn.3	-	5	2064	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	BEND4_uc003gwm.3_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	495	BEN.							p.R491L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCGCCCCTGTCGGGCGTGACC	0.527000														11			11		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501161	195501161	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195501161G>A	uc021xjp.1	-	3	13115	c.12959C>T	c.(12958-12960)cCc>cTc	p.P4320L	MUC4_uc003fuz.3_5'UTR|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.P61L|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.P61L|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.P84L|MUC4_uc003fvp.3_Missense_Mutation_p.P33L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1077					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCCCCATAGGGGAAGAGGGA	0.632000														94			23		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552441	47552441	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47552441A>C	uc002zia.1	+	27	3117	c.3035A>C	c.(3034-3036)gAc>gCc	p.D1012A	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	1012	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCTTCTTCGACCGCTTCATC	0.692000														22			6		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897961	61897961	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61897961A>C	uc001nsw.1	+	3	1164	c.962A>C	c.(961-963)aAg>aCg	p.K321T	INCENP_uc009ynv.3_Missense_Mutation_p.K321T|INCENP_uc009ynw.1_Missense_Mutation_p.K321T|INCENP_uc001nsx.1_Missense_Mutation_p.K321T	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	321					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTAGCCCAGAAGTACTCTCTG	0.612000														106			17		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32446929	32446929	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32446929A>C	uc001rku.3	+	3	508	c.427_splice	c.e3-1	p.N143_splice	BICD1_uc001rkv.3_Splice_Site_p.N143_splice|BICD1_uc010skd.2_Splice_Site	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	143					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGTTTCAGAACAATGAGATG	0.368000														22			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	A	A	rs148196865		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140181759G>A	uc003lhf.2	+	0	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G326E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G326E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000														33			29		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73965443	73965443	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73965443C>T	uc004eby.3	-	1	660	c.43G>A	c.(43-45)Gga>Aga	p.G15R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	15					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTTTTCTCCGTTGGCTGAG	0.363000														1			24		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409344	10409344	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10409344C>T	uc002gmo.3	-	17	2135	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	681	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GTTTTAGTTTCATTGGGGATG	0.438000														2			90		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73715030	73715030	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73715030G>A	uc001our.3	-	5	1021	c.666C>T	c.(664-666)gtC>gtT	p.V222V	UCP3_uc001ous.2_Silent_p.V222V	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	222					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CAAAGGCAGAGACAAAGTGGC	0.537000														26			13		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34950591	34950591	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34950591C>T	uc003ojx.4	+	4	937	c.795C>T	c.(793-795)atC>atT	p.I265I	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	265						cytoplasm	protein binding	p.Q264H(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGTGCAAATCCTGCTGGCTG	0.562000														41			36		0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27177659	27177659	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27177659C>T	uc001bnb.3	+	5	968	c.873C>T	c.(871-873)tcC>tcT	p.S291S	BC016143_uc021ojq.1_Intron	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	291						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCATCTGGTCCATTCTGGGCC	0.572000														59			75		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92983057	92983057	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92983057C>T	uc003umo.3	+	25	2697	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*	CCDC132_uc003ump.3_Nonsense_Mutation_p.R827*|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Nonsense_Mutation_p.R577*	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	857										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTGGCTAATCGAACTATTGT	0.338000														54			42		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206626721	206626721	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206626721A>T	uc001hdy.3	+	16	2095	c.2094A>T	c.(2092-2094)caA>caT	p.Q698H	SRGAP2_uc010prt.1_Missense_Mutation_p.Q621H|SRGAP2_uc001hdx.3_Missense_Mutation_p.Q698H|SRGAP2_uc010pru.2_Missense_Mutation_p.Q697H|SRGAP2_uc010prv.1_Missense_Mutation_p.Q622H	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	785					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGTGGTCCAAGACACGTACG	0.582000														18			5		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40387940	40387940	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:40387940C>T	uc002rrx.3	-	7	2258	c.2234G>A	c.(2233-2235)aGa>aAa	p.R745K	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.R740K|SLC8A1_uc002rsb.2_Missense_Mutation_p.R737K|SLC8A1_uc002rrz.3_Missense_Mutation_p.R732K|SLC8A1_uc002rsa.3_Missense_Mutation_p.R709K|SLC8A1_uc002rsd.4_Missense_Mutation_p.R709K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	745					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAACTGTTCTCTCCAGCTGTT	0.398000														32			41		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438613	114438613	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114438613G>A	uc001eeb.3	-	8	1744	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.R352C|AP4B1_uc010owp.2_Missense_Mutation_p.R421C|AP4B1_uc001eed.3_Missense_Mutation_p.R520C|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.R47C	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	520					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGGAGGCGATAATAGAAG	0.438000														30			34		0	0	1	0	0
OR7E5P	219445	broad.mit.edu	37	11	55747433	55747433	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55747433C>T	uc010riu.1	-	3	579	c.24G>A	c.(22-24)ggG>ggA	p.G8G						Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA.											breast(1)|kidney(1)|lung(5)	7						TGAGCAGGTTCCCCAGCACCG	0.572000														26			16		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28844889	28844889	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:28844889C>T	uc001urz.3	+	12	1996	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	PAN3_uc010tdo.1_Missense_Mutation_p.S615F|PAN3_uc001ury.3_Missense_Mutation_p.S303F|PAN3_uc001urx.3_Missense_Mutation_p.S415F	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	615	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTGCCAGAATCTCTTATTTGG	0.403000														38			21		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789736	130789736	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130789736A>C	uc003ysr.3	-	1	980	c.98T>G	c.(97-99)tTa>tGa	p.L33*		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	33						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AAACTGACGTAATTTGGTGGC	0.398000														97			27		0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141657	14141657	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14141657G>A	uc002mxw.1	+	1	326	c.326G>A	c.(325-327)gGa>gAa	p.G109E	IL27RA_uc002mxx.3_5'Flank|RLN3_uc010dzj.1_3'UTR	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	109						extracellular region	hormone activity			endometrium(1)|lung(4)	5						AGCTGGCAAGGAACCCCTGGG	0.622000														50			57		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068317	122068317	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:122068317C>T	uc021xrj.1	-	9	932	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	TNIP3_uc010ing.3_Missense_Mutation_p.E208K|TNIP3_uc011cgj.2_Missense_Mutation_p.E278K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	208										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTTCTTCGTATATTTGC	0.368000														14			34		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914566	213914566	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:213914566A>T	uc002vem.3	-	4	614	c.445T>A	c.(445-447)Ttt>Att	p.F149I	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.F96I|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.F123I|IKZF2_uc002vel.3_Missense_Mutation_p.F70I|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Missense_Mutation_p.F123I|IKZF2_uc002ven.3_Missense_Mutation_p.F123I	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTCTGAGTAAAAGAAGCTCCA	0.468000														19			9		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033166	20033166	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20033166C>T	uc002wrs.3	-	1	336	c.304G>A	c.(304-306)Gga>Aga	p.G102R	C20orf26_uc010gcw.2_5'UTR|C20orf26_uc010zse.2_5'UTR|C20orf26_uc002wru.3_5'UTR|CRNKL1_uc002wrt.1_Missense_Mutation_p.G90R	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.G102E(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCACCGTTTCCATGGTGACCA	0.617000														53			20		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336956	126336956	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126336956C>T	uc003ifj.4	+	4	6838	c.6838C>T	c.(6838-6840)Ctt>Ttt	p.L2280F	FAT4_uc011cgp.2_Missense_Mutation_p.L578F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2280	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAACAATTCTTCAGGTCAG	0.358000														19			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870106	140870106	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140870106C>T	uc003lla.2	+	0	1299	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.S433S	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	433	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCACCTTCCCTACACAAAC	0.517000														91			76		0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16918209	16918209	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16918209A>C	uc003sts.3	-	1	107	c.34T>G	c.(34-36)Tta>Gta	p.L12V		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	12						extracellular region		p.L12S(1)		central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GTGACGAGTAAGAGGCAGAGA	0.418000														60			20		0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36472829	36472829	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:36472829C>T	uc001mwo.4	+	7	1045	c.656C>T	c.(655-657)tCt>tTt	p.S219F	PRR5L_uc001mwp.3_Missense_Mutation_p.S219F|PRR5L_uc009ykk.3_Missense_Mutation_p.S91F|PRR5L_uc010rfc.2_Intron	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	219								p.V218I(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CAAGTGGTTTCTCCTTTCCTC	0.532000														51			45		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170492691	170492691	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170492691T>C	uc002uez.3	+	12	1327	c.1107T>C	c.(1105-1107)gcT>gcC	p.A369A	PPIG_uc010fpx.3_Silent_p.A354A|PPIG_uc010fpy.3_Silent_p.A362A|PPIG_uc002ufb.3_Silent_p.A369A|PPIG_uc002ufd.3_Silent_p.A366A	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	369					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGCAGAGAGCTCAAAGAATGA	0.388000														57			10		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389761	158389761	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158389761G>A	uc010pii.2	-	0	896	c.896C>T	c.(895-897)tCa>tTa	p.S299L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACAAAGAGCTGATTTGAACTC	0.363000														27			23		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079124	20079124	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:20079124T>C	uc002zri.3	+	5	1902	c.1473T>C	c.(1471-1473)acT>acC	p.T491T	DGCR8_uc010grz.3_Silent_p.T491T|DGCR8_uc002zrj.3_Silent_p.T134T	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	491	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCTCATTACTTTATCAGTGC	0.483000														241			11		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529808	4529808	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4529808T>G	uc002mas.3	-	3	380	c.327A>C	c.(325-327)caA>caC	p.Q109H	PLIN5_uc002mat.1_Missense_Mutation_p.Q109H	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	109						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCTCCGAAGGTTGCTGGAGAA	0.622000														87			24		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110687912	110687912	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110687912G>A	uc011cft.2	-	1	334	c.126C>T	c.(124-126)tcC>tcT	p.S42S	CFI_uc003hzr.4_Silent_p.S42S	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	42					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTTTATCGCAGGAGAGGTGAG	0.423000														32			15		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	815780	815780	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:815780G>A	uc002cjw.2	+	9	996	c.885G>A	c.(883-885)cgG>cgA	p.R295R	MSLN_uc002cju.1_Silent_p.R295R|MSLN_uc002cjt.1_Silent_p.R295R|MSLN_uc010brd.1_Silent_p.R294R|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	295					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGTTCCGGCGGGAAGTGGAGA	0.701000														11			14		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12266961	12266961	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12266961T>G	uc001att.3	+	9	1359	c.1270T>G	c.(1270-1272)Tcc>Gcc	p.S424A	TNFRSF1B_uc001atu.3_Missense_Mutation_p.S229A|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	424					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGTCCCCTTCTCCAAGGAGGA	0.622000														100			11		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1871721	1871721	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:1871721T>A	uc003wpr.3	+	19	2525	c.2347T>A	c.(2347-2349)Tgc>Agc	p.C783S	ARHGEF10_uc003wpq.1_Missense_Mutation_p.C807S|ARHGEF10_uc003wps.3_Missense_Mutation_p.C745S|ARHGEF10_uc003wpv.3_Missense_Mutation_p.C516S|ARHGEF10_uc010lre.3_Missense_Mutation_p.C463S	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	808					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGCTGCGGACTGCTGCAGAAT	0.423000														80			16		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1761768	1761768	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:1761768C>T	uc004cqd.3	+	9	1199	c.983C>T	c.(982-984)tCt>tTt	p.S328F	ASMT_uc010ncy.3_Missense_Mutation_p.S328F|ASMT_uc004cqe.3_Missense_Mutation_p.S253F	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	300					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCTCTACTCTCTGAACATG	0.542000														34			37		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39022606	39022606	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39022606G>A	uc003xmt.4	+	8	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ADAM32_uc011lch.2_Missense_Mutation_p.E249K|ADAM32_uc003xmu.4_Missense_Mutation_p.E242K	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	242	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGGTCAGATGAAAATAAGAT	0.299000														40			34		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078948	97078948	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:97078948G>A	uc021rcc.1	+	8	1299	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	407										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACTACAGTGAGGAGTTTCTGT	0.488000														2			18		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244277	141244277	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:141244277T>C	uc003llp.3	-	2	1736	c.1619A>G	c.(1618-1620)gAg>gGg	p.E540G	PCDH1_uc011dbf.2_Missense_Mutation_p.E518G|PCDH1_uc003llq.3_Missense_Mutation_p.E540G	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	540	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTAAACCAGCTCAGCATTAGA	0.542000														25			18		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72288508	72288508	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72288508G>A	uc010rrc.2	-	30	2992	c.2746C>T	c.(2746-2748)Ctg>Ttg	p.L916L	PDE2A_uc001oso.3_Silent_p.L895L|PDE2A_uc010rra.2_Silent_p.L909L|PDE2A_uc001osn.3_Silent_p.L660L|PDE2A_uc010rrb.2_Silent_p.L907L|PDE2A_uc010rrd.2_Silent_p.L801L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	916					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCCTCATCCAGGAAGTCCAGC	0.597000														59			14		0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47901134	47901134	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47901134G>A	uc010igh.3	-	6	1007	c.830C>T	c.(829-831)cCc>cTc	p.P277L	NFXL1_uc003gxp.3_Missense_Mutation_p.P277L|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.P277L	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	277						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGGAGGGCAGGGACCTAGAAT	0.358000														22			6		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226816	139226816	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:139226816G>A	uc010lnd.3	+	3	482	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	161	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					GGACTACGCAGAGTTGGGGAC	0.557000														24			8		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184615844	184615844	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:184615844G>A	uc003ivx.3	+	22	2798	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	TRAPPC11_uc003ivw.3_Missense_Mutation_p.E866K|TRAPPC11_uc010isc.3_Missense_Mutation_p.E210K|TRAPPC11_uc003ivy.3_Missense_Mutation_p.E472K	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	866																	TACAACCGTTGAAGAAAAAGA	0.313000														14			4		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422501	31422501	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31422501A>T	uc010cap.1	+	12	1510	c.1461A>T	c.(1459-1461)cgA>cgT	p.R487R	ITGAD_uc002ebv.1_Silent_p.R487R	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	487					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCAGACCCGAGGGGGCCAGG	0.642000														102			24		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328187	48328187	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48328187A>G	uc010rhu.2	+	0	413	c.413A>G	c.(412-414)aAg>aGg	p.K138R		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R137R(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GATTGCCGGAAGTGTGGCCTG	0.577000														10			32		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85587442	85587442	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:85587442A>T	uc001dkt.3	+	17	2117	c.1926A>T	c.(1924-1926)gaA>gaT	p.E642D	WDR63_uc009wcl.3_Missense_Mutation_p.E603D	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	642										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGGAAGGCGAAGTGATATACA	0.353000														109			7		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788919	117788919	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:117788919G>A	uc004eqp.2	+	43	5027	c.4964G>A	c.(4963-4965)cGa>cAa	p.R1655Q	DOCK11_uc004eqq.2_Missense_Mutation_p.R1434Q	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1655	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTCTTCATCGAAAAAGTAAG	0.348000														2			52		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34485444	34485444	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:34485444G>A	uc003zum.3	+	3	383	c.190G>A	c.(190-192)Gag>Aag	p.E64K	DNAI1_uc011lom.1_Missense_Mutation_p.E64K	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	64					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GGAGTTAAAGGAGGAGTTCAC	0.502000									Kartagener syndrome					25			16		0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44929548	44929548	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44929548A>G	uc003oxp.3	-	6	688	c.522T>C	c.(520-522)acT>acC	p.T174T	SUPT3H_uc003oxn.1_Silent_p.T174T|SUPT3H_uc003oxo.3_Silent_p.T185T|SUPT3H_uc011dvv.2_Silent_p.T22T|SUPT3H_uc011dvw.2_Silent_p.T88T	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	256					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CCATAATTCGAGTTTGTCTTT	0.274000														37			10		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031606	110031606	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110031606C>T	uc001dxr.3	+	6	936	c.921C>T	c.(919-921)ctC>ctT	p.L307L	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	307										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAAGTTCTCGAGCGCCCCT	0.627000														27			18		0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512459	68512459	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:68512459A>T	uc021ooq.1	-	0	522	c.522T>A	c.(520-522)aaT>aaA	p.N174K	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.N174K	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	174					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAAGGCGCAATTCCACTCCA	0.542000														88			20		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				31			23		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109857339	109857339	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109857339A>C	uc001dxm.2	-	17	2361	c.2312T>G	c.(2311-2313)gTc>gGc	p.V771G	SORT1_uc010ovi.2_Missense_Mutation_p.V634G	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	771					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCTGCTACGACTGTGACCAG	0.423000														48			6		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364265	103364265	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103364265C>T	uc001dum.3	-	55	4559	c.4241G>A	c.(4240-4242)gGa>gAa	p.G1414E	COL11A1_uc001duk.3_Missense_Mutation_p.G598E|COL11A1_uc001dul.3_Missense_Mutation_p.G1402E|COL11A1_uc001dun.3_Missense_Mutation_p.G1363E|COL11A1_uc009weh.3_Missense_Mutation_p.G1286E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1402	Triple-helical region.				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)		ACCAGGCTTTCCTGCAGGTCC	0.463000														16			23		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753434	160753434	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:160753434G>A	uc003lys.1	-	9	1350	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	378					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	tttccagtagggtcccacaag	0.363000														19			14		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151463383	151463383	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151463383T>C	uc003ezc.3	+	3	638	c.518T>C	c.(517-519)cTt>cCt	p.L173P	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	173						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAAAAAATTCTTACAAAATAT	0.423000														6			153		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592186	17592187	+	Missense_Mutation	DNP	GG	AA	AA	rs146573703	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17592186_17592187GG>AA	uc001bai.3	+	3	419_420	c.379_380GG>AA	c.(379-381)gga>AAa	p.G127K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAACTGTGAGGGAAGGCAGGAC	0.545000														64			58		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166382	206166382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206166382C>T	uc002var.2	+	17	2794	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	PARD3B_uc010fub.2_Missense_Mutation_p.P863S|PARD3B_uc002vao.2_Missense_Mutation_p.P863S|PARD3B_uc002vap.2_Missense_Mutation_p.P801S|PARD3B_uc002vaq.2_Missense_Mutation_p.P794S	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	863	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		gaatgaagatccagaaaggaa	0.418000														18			5		0	0	1	0	0
CRTAP	10491	broad.mit.edu	37	3	33155730	33155730	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:33155730A>T	uc003cfl.4	+	0	281	c.161A>T	c.(160-162)aAg>aTg	p.K54M	CRTAP_uc010hfz.3_Missense_Mutation_p.K54M|CRTAP_uc003cfn.3_Intron	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	54						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GCGCTGGACAAGTACAGCGGC	0.692000														7			3		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505192	47505192	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47505192C>T	uc001cqt.3	+	7	1311	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	CYP4X1_uc001cqr.3_Missense_Mutation_p.S353F|CYP4X1_uc001cqs.3_Missense_Mutation_p.S289F	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	354						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGGGATGGGTCTTCTATCACT	0.507000														27			19		0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491737	86491737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:86491737C>T	uc003hpk.3	+	1	492	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	ARHGAP24_uc003hpi.1_Nonsense_Mutation_p.Q15*|ARHGAP24_uc003hpj.3_Nonsense_Mutation_p.Q15*	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	15					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAACAAGGCCAAGGGCGGCA	0.493000														12			19		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76649193	76649193	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76649193C>T	uc003kfa.3	+	9	1174	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	PDE8B_uc003kfd.3_Missense_Mutation_p.L330F|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.L357F|PDE8B_uc003kfc.3_Missense_Mutation_p.L377F	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	377					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TTTTGTCTCGCTCAAGAAACT	0.373000														17			6		0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52794938	52794938	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52794938T>G	uc003dfq.4	-	5	1039	c.836A>C	c.(835-837)aAt>aCt	p.N279T	NEK4_uc011bej.2_Missense_Mutation_p.N190T|NEK4_uc003dfr.3_Missense_Mutation_p.N279T	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	279					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTAATGTTATTTTTGGAGGT	0.348000														60			21		0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014930	127014930	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127014930T>G	uc010lla.2	-	4	1172	c.460A>C	c.(460-462)Att>Ctt	p.I154L	ZNF800_uc003vlw.1_Missense_Mutation_p.I57L|ZNF800_uc003vlx.1_Missense_Mutation_p.I154L|ZNF800_uc003vly.1_Missense_Mutation_p.I154L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTGACTTCAATAGGATTATCA	0.363000														54			4		0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624680	11624680	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11624680G>A	uc002msb.3	-	2	587	c.453C>T	c.(451-453)ttC>ttT	p.F151F	ECSIT_uc010dyc.2_Silent_p.F151F|ECSIT_uc010dyd.3_Silent_p.F151F|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	151					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGTAGTGGACGAAGATGCGCT	0.617000														29			21		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42837755	42837755	+	Splice_Site	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42837755A>T	uc002otl.4	+	2	823	c.188_splice	c.e2-2	p.A63_splice		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	63	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCACCTCCCAGCCCCAAGCC	0.587000														75			23		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057022	120057022	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120057022T>G	uc001ehv.1	+	3	1021	c.876T>G	c.(874-876)taT>taG	p.Y292*		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	292					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.Y292H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CCCTGATGTATTGGATTGGCT	0.478000														114			18		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42893192	42893192	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:42893192G>A	uc010zwl.2	+	4	877	c.810G>A	c.(808-810)gaG>gaA	p.E270E	GDAP1L1_uc002xlp.1_Silent_p.E251E|GDAP1L1_uc002xlq.3_Silent_p.E251E|GDAP1L1_uc010zwm.2_Silent_p.E193E|GDAP1L1_uc010zwn.2_Silent_p.E59E	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	251	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAAGCTGGAGAACGAGGGTG	0.597000														16			20		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48166630	48166630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:48166630C>T	uc002xut.3	-	1	225	c.171G>A	c.(169-171)atG>atA	p.M57I	PTGIS_uc010zyi.2_5'UTR	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	57					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCTTCTCCTTCATCCTCGTGA	0.562000														35			33		0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179334802	179334802	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:179334802C>T	uc003fkc.3	+	3	341	c.312C>T	c.(310-312)ggC>ggT	p.G104G	NDUFB5_uc021xhu.1_Silent_p.G104G|NDUFB5_uc003fke.3_Silent_p.G52G|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	104					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTCCAGAAGGCTATGTCCCAG	0.323000														51			18		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826574	143826574	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143826574G>A	uc011kua.2	+	0	369	c.369G>A	c.(367-369)gcG>gcA	p.A123A		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATCGCTATGCGGACATCTGCC	0.498000														89			77		0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28917075	28917076	+	Silent	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28917075_28917076GG>AA	uc002drq.3	-	10	1488_1489	c.1440_1441CC>TT	c.(1438-1443)tccctg>tcTTtg	p.480_481SL>SL	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.409_410SL>SL|RABEP2_uc010byn.3_Silent_p.444_445SL>SL	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	480					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGGCTGCACAGGGAGGCTGGGA	0.658000														12			31		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221352	63221352	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:63221352C>T	uc002jfe.3	+	17	1843	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	RGS9_uc010dem.3_Missense_Mutation_p.A544V|RGS9_uc002jfd.3_Missense_Mutation_p.A544V|RGS9_uc002jfg.3_Missense_Mutation_p.A318V	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	547				GSMAPR -> WSGANP (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGGTCCATGGCCCCCCGTGGG	0.692000														9			125		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34270072	34270072	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:34270072C>T	uc001wru.3	+	11	2623	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	NPAS3_uc001wrs.3_Silent_p.F840F|NPAS3_uc001wrv.3_Silent_p.F823F|NPAS3_uc001wrt.3_Silent_p.F821F	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGTTAACTTCGTGGACGTTA	0.647000														10			4		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38945127	38945127	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38945127G>A	uc003jlo.2	-	35	4771	c.4749C>T	c.(4747-4749)atC>atT	p.I1583I	RICTOR_uc003jlp.2_Silent_p.I1559I|RICTOR_uc010ivf.2_Silent_p.I1236I	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1559					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGGATTATGGATAGTCTGCT	0.403000														25			96		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921669	213921669	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:213921669C>T	uc002vem.3	-	3	463	c.294G>A	c.(292-294)gaG>gaA	p.E98E	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Silent_p.E45E|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.E98E|IKZF2_uc002vel.3_Silent_p.E45E|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Silent_p.E98E|IKZF2_uc002ven.3_Silent_p.E98E	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGCCTTGAAGCTCCTGGACTT	0.512000														25			42		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31667171	31667171	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31667171A>C	uc003akh.3	+	11	1512	c.1367A>C	c.(1366-1368)aAc>aCc	p.N456T	LIMK2_uc003aki.3_Missense_Mutation_p.N210T|LIMK2_uc003akj.3_Missense_Mutation_p.N435T|LIMK2_uc003akk.3_Missense_Mutation_p.N435T|LIMK2_uc011aln.2_Missense_Mutation_p.N373T	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	456	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.H455N(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AACTCGCACAACTGCCTCATC	0.547000														76			5		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057696	152057696	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152057696T>C	uc001ezo.1	-	2	2527	c.2462A>G	c.(2461-2463)cAa>cGa	p.Q821R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	821							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AACTTGCTTTTGATGCTCCTC	0.478000														110			37		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51920406	51920406	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51920406A>G	uc003pah.1	-	18	2091	c.1815T>C	c.(1813-1815)taT>taC	p.Y605Y	PKHD1_uc003pai.3_Silent_p.Y605Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	605					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATCTAGCCGATAGCCCTTCT	0.552000														57			5		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086690	53086690	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53086690C>T	uc010ydn.2	+	4	1639	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	ZNF701_uc002pzs.2_Missense_Mutation_p.H460Y|ZNF701_uc021uyw.1_Missense_Mutation_p.H526Y	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCATAGACTTCATACTGGAAA	0.358000														50			19		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41711862	41711862	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41711862G>A	uc002opw.3	+	8	1220	c.1165_splice	c.e8-1	p.G389_splice	CYP2S1_uc010xvx.2_Splice_Site_p.G114_splice	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	389					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TTTCCCCTCAGGGCACGGAGG	0.532000														29			25		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190250801	190250801	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:190250801C>T	uc001gse.1	-	2	548	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	106						extracellular region		p.P105R(1)		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)					CGGAAGAATTCAGGGGCAAGA	0.423000														25			29		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575715	28575715	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:28575715C>T	uc003xgz.1	+	2	2732	c.2139C>T	c.(2137-2139)gtC>gtT	p.V713V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	713						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACATTGGCGTCCCCATCATGG	0.463000														35			26		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553531	19553531	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:19553531G>A	uc001vuz.1	+	0	167	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	39										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGGGGAGCGGCAAGAGCAA	0.592000														475			6		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892239	16892239	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16892239A>G	uc009vos.1	-	26	3841	c.2953T>C	c.(2953-2955)Tgt>Cgt	p.C985R	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	985	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTTGAATAACATCTATCCAGT	0.473000														854			14		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002976	122002976	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122002976C>T	uc003eew.4	+	6	2643	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	CASR_uc003eev.4_Silent_p.F725F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	725					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACCTGCAGTTCCTGCTGGTTT	0.572000														2			52		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116595298	116595298	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:116595298T>A	uc001lcb.3	+	3	632	c.297T>A	c.(295-297)tgT>tgA	p.C99*	FAM160B1_uc001lcc.3_Nonsense_Mutation_p.C99*	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	99										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATACCCAGTGTCCTCCGGGAA	0.418000														16			14		0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37430004	37430005	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37430004_37430005CC>TT	uc002rpz.3	-	14	2977_2978	c.2947_2948GG>AA	c.(2947-2949)ggc>AAc	p.G983N	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	983					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CAATAGATGGCCAAACTTTTAA	0.292000														13			17		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55178873	55178873	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:55178873G>A	uc003jql.3	+	5	647	c.455_splice	c.e5-1	p.A152_splice	IL31RA_uc003jqk.3_Splice_Site_p.A152_splice|IL31RA_uc011cqj.2_Splice_Site_p.A10_splice|IL31RA_uc003jqm.3_Splice_Site_p.A133_splice|IL31RA_uc003jqn.3_Splice_Site_p.A152_splice|IL31RA_uc010iwa.1_Splice_Site_p.A120_splice|IL31RA_uc021xyq.1_Splice_Site_p.A133_splice|IL31RA_uc003jqo.3_Splice_Site_p.A10_splice	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	120	Fibronectin type-III 2.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TATTTTCAGCGAAAACTGAAC	0.358000														12			17		0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19038659	19038659	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19038659A>G	uc002nkq.2	+	10	1254	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Missense_Mutation_p.E289G|DDX49_uc002nkr.2_Non-coding_Transcript	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	396							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AGAGAGTGTGAGATCGTGAGT	0.602000														63			7		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344746	5344746	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5344746C>T	uc001mao.1	-	0	837	c.782G>A	c.(781-783)aGa>aAa	p.R261K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCAAATCTGTAAATGAA	0.408000														34			34		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329204	88329204	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:88329204C>T	uc001vln.3	+	1	1780	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	SLITRK5_uc010tic.1_Missense_Mutation_p.P280S|SLITRK5_uc021rlc.1_Missense_Mutation_p.P521S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	521						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCAGGCCATGCCCTCAGGCGT	0.532000														26			56		0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395656	67395656	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67395656A>C	uc001omo.2	-	3	498	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	NUDT8_uc001omn.3_3'UTR	NM_001243750	NP_001230679	Q8WV74	NUDT8_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 8 (NUDT8), transcript variant 1, mRNA.	158	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CCCCGGCAGAAGTGGGTATAG	0.607000														42			16		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983807	51983807	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51983807G>A	uc002pwv.1	+	2	456	c.456G>A	c.(454-456)agG>agA	p.R152R		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	152						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACACTGGCAGGGAGAGAGTGA	0.542000														31			23		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72416853	72416853	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72416853G>A	uc001osu.3	-	12	1995	c.1806C>T	c.(1804-1806)atC>atT	p.I602I	ARAP1_uc001osv.3_Silent_p.I602I|ARAP1_uc001osr.3_Silent_p.I362I|ARAP1_uc001oss.3_Silent_p.I357I|ARAP1_uc009yth.3_Silent_p.I357I|ARAP1_uc010rre.2_Silent_p.I357I	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	602	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCCCACCTCGATAAGTGTTT	0.617000														36			39		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155747457	155747457	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155747457G>A	uc001flz.2	-	14	2144	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Silent_p.L683L|GON4L_uc009wrh.1_Silent_p.L683L|GON4L_uc001fma.1_Silent_p.L683L|GON4L_uc001fmb.4_5'Flank|GON4L_uc001fmc.3_Silent_p.L683L|GON4L_uc001fmd.4_Silent_p.L683L|GON4L_uc009wri.3_Silent_p.L269L|GON4L_uc009wrj.2_Silent_p.L198L|GON4L_uc001fme.3_Silent_p.L511L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	683					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGGGTCCAGAATCAGAGTC	0.438000														83			59		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39636955	39636955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39636955C>T	uc002hws.3	-	0	438	c.395G>A	c.(394-396)tGg>tAg	p.W132*		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	132	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGCTCACACCACTCACGGAT	0.602000														29			39		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78399581	78399581	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:78399581C>T	uc001xui.3	+	10	1518	c.1419C>T	c.(1417-1419)acC>acT	p.T473T	ADCK1_uc001xuj.3_Silent_p.T405T|ADCK1_uc001xul.3_Silent_p.T180T	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	480						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGAAGAATACCTGTTCATTCT	0.423000														26			18		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661616	113661616	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:113661616G>A	uc001pof.1	+	0		c.1664G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		AAGGAGATAGGAAGCCAGACT	0.507000														0			15		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161133674	161133674	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161133674T>G	uc010pkc.2	+	8	1498	c.1121T>G	c.(1120-1122)tTt>tGt	p.F374C	USP21_uc010pkd.2_Missense_Mutation_p.F374C|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	374					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTAGACCTGTTTGTGGGCCAG	0.502000														98			17		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69092038	69092038	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69092038A>C	uc011bfx.2	-	4	1860	c.1613T>G	c.(1612-1614)cTt>cGt	p.L538R	TMF1_uc003dnn.3_Missense_Mutation_p.L535R	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	535					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTAGTGGCAAGTTCTTCTTT	0.358000														106			5		0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176530	111176531	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111176530_111176531GG>AA	uc001vqy.3	-	1	391_392	c.186_187CC>TT	c.(184-189)ttccac>ttTTac	p.H63Y		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	63					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCCAGGCCGTGGAACTGCTCCC	0.609000														24			35		0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724400	217724400	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:217724400G>A	uc002vgk.3	-	1	183	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_003284	NP_003275	P09430	STP1_HUMAN	Homo sapiens transition protein 1 (during histone to protamine replacement) (TNP1), mRNA.	53					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	p.R52C(1)		large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACAAGTGGGAGCGGTAATT	0.522000														97			33		0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10188298	10188298	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:10188298T>C	uc003bvc.3	+	1	654	c.441T>C	c.(439-441)atT>atC	p.I147I	VHL_uc003bvd.3_Intron	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.P146fs*13(5)|p.I147fs*11(4)|p.I147fs*12(4)|p.P146P(2)|p.I147fs*25(2)|p.I147fs*10(2)|p.I147_F148del(2)|p.I147fs*27(2)|p.P146fs*23(2)|p.I147fs*13(1)|p.P146A(1)|p.I147fs*26(1)|p.P146fs*12(1)|p.G144fs*19(1)|p.F148fs*26(1)|p.F148fs*25(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACAGCCTATTTTTGCCAATA	0.418000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					95			41		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64375247	64375247	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64375247G>A	uc021qkw.1	-	22	5022	c.4560C>T	c.(4558-4560)gtC>gtT	p.V1520V	NRXN2_uc021qkx.1_Silent_p.V1450V|NRXN2_uc001oas.3_Silent_p.V1450V|NRXN2_uc001oao.3_Silent_p.V160V|NRXN2_uc001oap.3_Silent_p.V474V|NRXN2_uc001oaq.3_Silent_p.V1187V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1520					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCGGTCCGTGACCAGGGGAA	0.687000														10			6		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53613028	53613028	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53613028C>T	uc002qax.3	-	6	763	c.414G>A	c.(412-414)aaG>aaA	p.K138K	ZNF415_uc010yds.2_Silent_p.K90K|ZNF415_uc010ydt.2_Silent_p.K90K|ZNF415_uc002qau.3_Silent_p.K77K|ZNF415_uc002qav.3_Silent_p.K102K|ZNF415_uc002qaw.3_Silent_p.K90K|ZNF415_uc002qay.3_Silent_p.K77K|ZNF415_uc002qaz.3_Silent_p.K138K|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTATTTTTTTCTTGATTTCCC	0.403000														100			12		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506852	11506852	+	Missense_Mutation	SNP	G	T	T	rs151023240		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11506852G>T	uc001qzw.1	-	2	222	c.185C>A	c.(184-186)cCa>cAa	p.P62Q	PRB1_uc001qzu.1_Missense_Mutation_p.P62Q|PRB1_uc001qzv.1_Missense_Mutation_p.P62Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	62	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.607000														363			8		0.00829132	0.0082953	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175048	57175048	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57175048G>A	uc010ygn.2	-	1	1746	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCAGGCGTGGGAGCTGGGCAA	0.617000														202			101		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175331899	175331899	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:175331899G>A	uc001gkp.1	-	11	2835	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	TNR_uc009wwu.1_Silent_p.F918F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	918	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGATGGTGAATTCTGTCA	0.517000														49			51		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4442857	4442857	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4442857A>G	uc002fxz.4	-	25	3902	c.3840T>C	c.(3838-3840)gcT>gcC	p.A1280A	MYBBP1A_uc002fyb.4_Silent_p.A1280A|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Silent_p.A225A|MYBBP1A_uc010vsa.2_Silent_p.A322A	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1280	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TTTTGGGAAGAGCCTTCTGAT	0.562000														263			48		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290836	50290837	+	Missense_Mutation	DNP	AA	CC	CC			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:50290836_50290837AA>CC	uc002xwg.1	-	10	892_893	c.892_893TT>GG	c.(892-894)ttg>GGg	p.L298G	ATP9A_uc010gih.1_Missense_Mutation_p.L162G|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	298					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTCACTTCCAAGTCGAACAGG	0.550000														56			9		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108536385	108536385	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:108536385A>C	uc001kyl.3	-	3	974	c.792T>G	c.(790-792)acT>acG	p.T264T	SORCS1_uc021pxw.1_Silent_p.T264T|SORCS1_uc009xxs.3_Silent_p.T264T|SORCS1_uc001kym.3_Silent_p.T264T|SORCS1_uc001kyn.2_Silent_p.T264T|SORCS1_uc001kyo.3_Silent_p.T264T	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	264						integral to membrane	neuropeptide receptor activity|protein binding	p.T264T(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTTTTGATAAGTTGCCCCTT	0.423000														33			16		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492122	103492122	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103492122C>T	uc001vpu.2	+	8	1541	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	BIVM-ERCC5_uc001vps.3_Silent_p.F473F|BIVM-ERCC5_uc010agc.3_Silent_p.F251F|BIVM-ERCC5_uc001vpv.3_Silent_p.F244F	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	444					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GTGCTAGTTTCCATCAGGACT	0.468000														68			93		0	0	1	0	0
C12orf32	83695	broad.mit.edu	37	12	2997175	2997175	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2997175C>T	uc001qlh.3	+	2	435	c.267C>T	c.(265-267)tcC>tcT	p.S89S	TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'Flank|TULP3_uc001qlj.2_5'Flank|TULP3_uc010seh.1_5'Flank|TULP3_uc010sei.1_5'Flank|C12orf32_uc010see.2_Silent_p.S75S|C12orf32_uc001qli.3_5'UTR	NM_001252499	NP_001239428			Homo sapiens chromosome 12 open reading frame 32 (C12orf32), transcript variant 1, mRNA.											endometrium(1)|kidney(1)|lung(3)	5			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTACCACCTCCAAGTTTCCAC	0.483000														15			11		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955270	30955270	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30955270T>C	uc003nsh.2	+	1	1569	c.1318T>C	c.(1318-1320)Tcc>Ccc	p.S440P	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S424P	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	440	Ser-rich.					integral to membrane|plasma membrane		p.S440T(2)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAACTCTGGGTCCAGTGTGAC	0.577000														85			27		0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220599	146220599	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:146220599G>A	uc003zey.3	+	0	349	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		AGTGTGTTTTGAGAGCAAGGA	0.403000														36			27		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414495	73414495	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:73414495C>G	uc003hgk.2	-	2	241	c.204G>C	c.(202-204)agG>agC	p.R68S		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	68					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTCGCTGACCTCTTTTTGT	0.448000														43			14		0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32886658	32886658	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32886658T>G	uc010skh.1	+	13	1656	c.1654T>G	c.(1654-1656)Tta>Gta	p.L552V	DNM1L_uc001rld.2_Missense_Mutation_p.L486V|DNM1L_uc001rle.2_Missense_Mutation_p.L486V|DNM1L_uc001rlf.2_Missense_Mutation_p.L486V|DNM1L_uc001rlg.2_Missense_Mutation_p.L552V|DNM1L_uc001rlh.2_Missense_Mutation_p.L539V|DNM1L_uc010ski.1_Missense_Mutation_p.L283V	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	486	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGTCCATAACTTAGTGGCAAT	0.289000														212			5		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4643995	4643995	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4643995C>T	uc002fyu.2	+	0	182	c.152C>T	c.(151-153)cCc>cTc	p.P51L	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.P51L|ZMYND15_uc002fyt.2_Missense_Mutation_p.P51L	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	51							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGAAGGCTACCCCAGGACCCT	0.642000														29			13		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45883615	45883615	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45883615C>T	uc010rgn.2	+	4	742	c.720C>T	c.(718-720)ttC>ttT	p.F240F	CRY2_uc009ykw.3_Silent_p.F158F|CRY2_uc010rgo.2_5'UTR	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	219	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CTTCAGGGTTCCCCACTGAAG	0.517000														8			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062055	9062055	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9062055G>A	uc002mkp.3	-	2	25595	c.25391C>T	c.(25390-25392)cCt>cTt	p.P8464L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8466	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTGATCAGGCCCTGACAT	0.493000														99			98		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41610002	41610002	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:41610002A>G	uc003azo.3	+	2	422	c.368A>G	c.(367-369)aAg>aGg	p.K123R	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K32R|L3MBTL2_uc003azn.3_Non-coding_Transcript|AK057177_uc003azp.1_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	123					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAACTCCAAGAAAGCCAGT	0.532000														85			4		0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149792249	149792249	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149792249C>T	uc003lsc.3	-	0	251	c.64G>A	c.(64-66)Gac>Aac	p.D22N	CD74_uc003lsd.3_Missense_Mutation_p.D22N|CD74_uc003lse.3_Missense_Mutation_p.D22N	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	22					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGATAAGGTCGCGCTGGTCA	0.617000			T	ROS1	NSCLC									75			63		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803067	185803068	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185803067_185803068GG>AA	uc002uph.3	+	3	3538_3539	c.2944_2945GG>AA	c.(2944-2946)gga>AAa	p.G982K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTTCCACAAGGAAAGATGAAT	0.421000														51			30		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090869	50090869	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:50090869G>A	uc003jon.4	+	12	1228	c.1046G>A	c.(1045-1047)aGg>aAg	p.R349K	PARP8_uc011cpz.2_Missense_Mutation_p.R241K|PARP8_uc003joo.3_Missense_Mutation_p.R349K|PARP8_uc003jop.3_Missense_Mutation_p.R349K	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	349						intracellular	NAD+ ADP-ribosyltransferase activity	p.R349W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGCGATCCCAGGGCGGAGCAG	0.512000														24			57		0	0	1	0	0
GPR3	2827	broad.mit.edu	37	1	27721270	27721270	+	Missense_Mutation	SNP	G	A	A	rs149104107		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27721270G>A	uc001bod.3	+	1	1063	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GPR3_uc021ojv.1_Missense_Mutation_p.R323Q	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	323					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCCCTTCCGATCCCGCTCC	0.517000														113			144		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241570	155241570	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155241570C>T	uc003inw.2	-	13	3616	c.3616G>A	c.(3616-3618)Gga>Aga	p.G1206R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1206	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1205L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTTCATTTCCTGAGAGGATG	0.393000														60			32		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79033624	79033624	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79033624A>C	uc003kgc.3	+	1	9108	c.9036A>C	c.(9034-9036)aaA>aaC	p.K3012N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3012						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGATGAAAAAGTTACCCCAT	0.333000														17			5		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483127	102483127	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102483127C>T	uc001yks.2	+	37	7803	c.7639C>T	c.(7639-7641)Ccg>Tcg	p.P2547S	DYNC1H1_uc001ykt.1_Missense_Mutation_p.P38S	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2547					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAATGGTCTCCGTGGCAGGC	0.582000														27			7		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099744	110099744	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110099744G>A	uc003ymz.4	+	0	92	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	1						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTCTAAAGATGGAAAACGAGA	0.463000														25			23		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598346	46598346	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:46598346G>A	uc009zkj.1	-	9	1359	c.674C>T	c.(673-675)tCc>tTc	p.S225F	SLC38A1_uc001rpb.3_Missense_Mutation_p.S225F|SLC38A1_uc001rpc.3_Missense_Mutation_p.S225F|SLC38A1_uc001rpd.3_Missense_Mutation_p.S225F|SLC38A1_uc001rpe.3_Missense_Mutation_p.S225F|SLC38A1_uc010slh.2_Missense_Mutation_p.S198F|SLC38A1_uc001rpa.3_Missense_Mutation_p.S225F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	225					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAGCTCAAGGAAAATCCACT	0.294000														216			41		0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95580899	95580899	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:95580899A>C	uc001pfu.3	-	9	1411	c.1158T>G	c.(1156-1158)acT>acG	p.T386T	MTMR2_uc001pfv.3_Silent_p.T314T|MTMR2_uc001pfs.3_Silent_p.T314T|MTMR2_uc001pft.3_Silent_p.T314T|MTMR2_uc010ruj.1_Silent_p.T369T	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	386	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTAGCCAATGAGTAGATTCCA	0.358000														46			4		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75150160	75150160	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75150160A>G	uc001xqb.3	-	4	825	c.320T>C	c.(319-321)cTa>cCa	p.L107P	KIAA0317_uc010tut.1_5'UTR|KIAA0317_uc001xqd.1_Non-coding_Transcript	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	107					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TTCCACTGCTAGCTCGACATG	0.512000														137			11		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973962	128973962	+	Missense_Mutation	SNP	C	T	T	rs139810222		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:128973962C>T	uc001lju.1	-	0	739	c.698G>A	c.(697-699)gGg>gAg	p.G233E	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.G233E|FAM196A_uc001ljv.1_Missense_Mutation_p.G233E|FAM196A_uc009yap.1_Missense_Mutation_p.G233E	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	233										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTGGCCTCCCCCGGTCCTG	0.647000														11			11		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294572	219294572	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219294572G>A	uc002vib.3	+	8	872	c.850_splice	c.e8-1	p.D284_splice	VIL1_uc010zke.2_Splice_Site|VIL1_uc002via.3_Splice_Site_p.D284_splice|VIL1_uc002vic.1_Splice_Site_p.D284_splice	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	284	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGACTCTAGGACTGTTACAT	0.567000														15			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642648	179642648	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179642648C>T	uc021vsy.1	-	24	4488	c.4263G>A	c.(4261-4263)cgG>cgA	p.R1421R	TTN_uc021vsz.1_Silent_p.R1375R|TTN_uc021vta.1_Silent_p.R1375R|TTN_uc021vtb.1_Silent_p.R1375R|TTN_uc002unb.2_Silent_p.R1421R|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1421	ZIS5.						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)			CAGGTGACATCCGTGCAGGAG	0.498000														10			23		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1024082	1024082	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1024082C>T	uc001lsw.2	-	24	3298	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1083					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCAGGCCTCGTAGTAGGGC	0.657000														19			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749751	22749751	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:22749751C>T	uc021wml.1	+	56		c.6435C>T								Parts of antibodies, mostly variable regions.																		GGGGGCAAAGCTGCCCTGACA	0.552000														69			10		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45452041	45452041	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45452041A>C	uc002iln.3	+	11	1512	c.1081A>C	c.(1081-1083)Aaa>Caa	p.K361Q	C17orf57_uc002ilm.3_Missense_Mutation_p.K265Q|C17orf57_uc002ill.1_Missense_Mutation_p.K117Q|C17orf57_uc010daz.1_Missense_Mutation_p.K313Q	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	361							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TAAAAGACCAAAAAATACTTG	0.323000														1			50		0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69424032	69424032	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:69424032C>T	uc004afn.3	+	14	2440	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	776										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAAGACTTCGTGCTAGAAG	0.348000														104			48		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84996295	84996295	+	Missense_Mutation	SNP	G	A	A	rs148579957		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:84996295G>A	uc001pak.2	-	3	467	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA.	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCATGGCACGGAGCAAGAAG	0.378000														8			53		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099984	50099984	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50099984C>T	uc002poo.4	+	3	2392	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	489							DNA binding	p.Q800fs*26(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCTCCGCCTCCCCCCCAGCT	0.721000														13			33		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153790	45153790	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:45153790C>T	uc003com.3	-	2	575	c.440G>A	c.(439-441)aGg>aAg	p.R147K	CDCP1_uc003con.3_Missense_Mutation_p.R147K	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	147						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACCGATCTGCCTCAGGCGAGG	0.547000														50			101		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234941	103234941	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103234941T>G	uc022ajr.1	-	26	3700	c.3540_splice	c.e26-1	p.R1180_splice	RELN_uc022ajq.1_Splice_Site_p.R1180_splice|RELN_uc010liz.3_Splice_Site_p.R1180_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1180					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)		TAGACAAATCTGAATAAAAGT	0.443000														72			67		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188066	57188066	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:57188066G>A	uc010kzo.3	-	4	1327	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACAGGCATAGGGTTTCTCTC	0.433000														15			6		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48540596	48540596	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48540596T>C	uc010wmm.1	+	7	1051	c.947T>C	c.(946-948)cTg>cCg	p.L316P	ACSF2_uc002iqu.2_Missense_Mutation_p.L291P|ACSF2_uc010wml.1_Missense_Mutation_p.L248P|ACSF2_uc010wmn.1_Missense_Mutation_p.L278P|ACSF2_uc010wmo.1_Missense_Mutation_p.L131P	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	291			V -> M (in dbSNP:rs3744523).		fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	p.S315S(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGAGAGCGCCTGAAACTGCAT	0.622000														70			47		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538757	10538757	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10538757T>C	uc002gmq.2	-	29	4187	c.4099A>G	c.(4099-4101)Agt>Ggt	p.S1367G		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1367					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCAACCTCACTATTGGCCTTG	0.587000														158			50		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41228857	41228857	+	Nonsense_Mutation	SNP	C	T	T	rs61750844		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:41228857C>T	uc001zng.2	+	8	2008	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	558					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGCGGCTTCGACGGCCGGA	0.627000														0			22		0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38060914	38060914	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:38060914G>A	uc001wuf.3	-	1	1387	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	FOXA1_uc010tpz.2_Missense_Mutation_p.P326S	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	359					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGCTTATGGGGGGCGCAGTT	0.731000														5			5		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677487	37677487	+	Missense_Mutation	SNP	G	C	C	rs111650421		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37677487G>C	uc002ofq.3	-	4	1204	c.952C>G	c.(952-954)Cgt>Ggt	p.R318G	ZNF585B_uc002ofr.1_Missense_Mutation_p.R132G	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGAACACGTTGATGTACC	0.383000														122			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072287	9072287	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9072287G>A	uc002mkp.3	-	2	15363	c.15159C>T	c.(15157-15159)tcC>tcT	p.S5053S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5055	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAAATCAGGGAAGGTGTGG	0.478000														42			25		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50945486	50945486	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50945486A>C	uc002psf.2	+	8	869	c.818A>C	c.(817-819)aAg>aCg	p.K273T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	273	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGAGGCAACAAGATCAAGTTG	0.527000														9			3		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77411876	77411876	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77411876T>A	uc001oyn.3	-	5	2518	c.2398A>T	c.(2398-2400)Aga>Tga	p.R800*	RSF1_uc001oym.3_Nonsense_Mutation_p.R548*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	800					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCTTCCCCTCTTTTTTTATCA	0.368000														78			5		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143225	200143225	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200143225G>A	uc001gvb.3	+	7	1719	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	NR5A2_uc001gvc.3_Missense_Mutation_p.E459K|NR5A2_uc009wzh.3_Missense_Mutation_p.E465K|NR5A2_uc010pph.2_Missense_Mutation_p.E433K	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	505					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCGACTACCCGAAATCCGGGC	0.488000														21			25		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525538	61525538	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61525538G>A	uc002ydr.2	-	11	2893	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	DIDO1_uc002yds.2_Missense_Mutation_p.P861S|DIDO1_uc002ydt.2_Missense_Mutation_p.P861S|DIDO1_uc002ydu.2_Missense_Mutation_p.P861S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	861					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGCGGAGGGAACCTGGCCT	0.493000														64			54		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235571	127235571	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127235571A>G	uc003vmd.2	+	1	574	c.355A>G	c.(355-357)Aat>Gat	p.N119D	FSCN3_uc003vmc.1_Missense_Mutation_p.N74D|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.N119D	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	119						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTGGAGTCCAATGGCAAGGA	0.572000														26			33		0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829499	24829499	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24829499T>C	uc002zzx.3	+	3	890	c.127T>C	c.(127-129)Tac>Cac	p.Y43H	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.Y43H|ADORA2A_uc021wng.1_Missense_Mutation_p.L62P|ADORA2A_uc011ajs.2_Intron|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guo.1_Missense_Mutation_p.L62P|ADORA2A_uc010guq.3_Missense_Mutation_p.Y43H|ADORA2A_uc010gup.3_Missense_Mutation_p.Y43H|ADORA2A_uc003aab.3_Missense_Mutation_p.Y43H	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	43					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGTCACCAACTACTTTGTGGT	0.627000														107			4		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339224	72339224	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72339224C>T	uc002jkm.4	+	4	519	c.381C>T	c.(379-381)acC>acT	p.T127T	KIF19_uc002jkj.2_Silent_p.T127T|KIF19_uc002jkk.2_Silent_p.T127T|KIF19_uc002jkl.2_Silent_p.T127T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	127	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						ATGTTCAGACCCTCAACGACC	0.592000														17			9		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180429693	180429693	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180429693C>T	uc003mmr.3	+	3	879	c.695C>T	c.(694-696)cCt>cTt	p.P232L	BTNL3_uc010jlp.3_5'UTR	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	232					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CAGCCCTCACCTTGGCGCCTG	0.458000														1			20		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609808	100609808	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100609808C>T	uc003uxl.1	+	8	2948	c.2148C>T	c.(2146-2148)tcC>tcT	p.S716S	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CACCTAGGTCCTGGGACCAGG	0.692000														117			16		0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122942419	122942419	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122942419C>T	uc003ege.3	+	2	275	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	SEC22A_uc003egf.3_Silent_p.L66L	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	66	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	p.S65P(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TATTAGCTCTCTGGGAGTGAG	0.348000														78			41		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422699	26422699	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26422699C>T	uc003abz.1	+	42	7009	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	MYO18B_uc003aca.1_Silent_p.F2134F|MYO18B_uc010guy.1_Silent_p.F2135F|MYO18B_uc010guz.1_Silent_p.F2133F|MYO18B_uc011aka.1_Silent_p.F1407F|MYO18B_uc011akb.1_Silent_p.F1766F|MYO18B_uc010gva.1_Silent_p.F236F|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2253						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCGGAGTTCGTGGAAGGGC	0.617000														16			10		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825649	20825649	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:20825649G>A	uc002zsl.2	-	2	538	c.381C>T	c.(379-381)gcC>gcT	p.A127A	KLHL22_uc011ahr.2_Intron	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	127					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAAGCTGGCAGGCAGCCACCA	0.552000														30			29		0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029329	68029329	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68029329G>A	uc001onr.4	-	3	1576	c.1134C>T	c.(1132-1134)ccC>ccT	p.P378P		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	378						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTTGGGTGCTGGGCTGGCACG	0.607000														32			31		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969767	160969767	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160969767A>G	uc009wtt.3	-	6	862	c.592_splice	c.e6-1	p.V198_splice	F11R_uc010pjv.2_Splice_Site_p.V149_splice|F11R_uc010pjw.2_Splice_Site_p.V202_splice|F11R_uc001fxf.4_Splice_Site_p.V198_splice	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	198	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GGGATCAAAGACCTGAGGAAG	0.473000														75			4		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28796089	28796089	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28796089C>T	uc002rmb.2	+	20	1394	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	PLB1_uc010ezj.2_Silent_p.S461S|PLB1_uc002rmc.3_Silent_p.S138S|PLB1_uc002rmd.1_5'UTR	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	450	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCAACCCTTCCCTGAAGGGCT	0.498000														16			7		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4855405	4855405	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4855405A>T	uc001qne.1	+	5	1246	c.1154A>T	c.(1153-1155)aAc>aTc	p.N385I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	385	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGAGGAGAGAACGTGGAGCTT	0.498000														50			48		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2800218	2800218	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2800218C>T	uc009zdu.1	+	49	6832	c.6519C>T	c.(6517-6519)ccC>ccT	p.P2173P	CACNA1C_uc001qkc.2_Silent_p.P2109P|CACNA1C_uc001qjz.2_Silent_p.P2090P|CACNA1C_uc001qkd.2_Silent_p.P2109P|CACNA1C_uc001qke.2_Silent_p.P2079P|CACNA1C_uc001qkf.2_Silent_p.P2098P|CACNA1C_uc009zdw.1_Silent_p.P2131P|CACNA1C_uc001qkg.2_Silent_p.P2096P|CACNA1C_uc001qkh.2_Silent_p.P2098P|CACNA1C_uc001qkl.2_Silent_p.P2138P|CACNA1C_uc001qkj.2_Silent_p.P2125P|CACNA1C_uc001qkk.2_Silent_p.P2090P|CACNA1C_uc001qkn.2_Silent_p.P2090P|CACNA1C_uc001qkm.2_Silent_p.P2150P|CACNA1C_uc001qko.2_Silent_p.P2110P|CACNA1C_uc001qkp.2_Silent_p.P2090P|CACNA1C_uc001qkq.2_Silent_p.P2118P|CACNA1C_uc001qku.2_Silent_p.P2125P|CACNA1C_uc001qkr.2_Silent_p.P2107P|CACNA1C_uc001qks.2_Silent_p.P2090P|CACNA1C_uc001qkt.2_Silent_p.P2109P|CACNA1C_uc009zdv.1_Silent_p.P2087P|CACNA1C_uc001qkb.2_Silent_p.P2090P|CACNA1C_uc001qki.1_Silent_p.P1897P|CACNA1C_uc010sea.1_Silent_p.P781P|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.P408P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2173					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACAGAGCCCCAATGGCGCCC	0.697000														4			6		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104748312	104748312	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:104748312T>C	uc003vcm.3	+	21	3942	c.3408T>C	c.(3406-3408)acT>acC	p.T1136T	MLL5_uc010ljc.3_Silent_p.T1136T|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.3_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1136					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TCGGACGGACTGTTAATGACA	0.383000														37			9		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968341	38968341	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38968341G>A	uc021wvy.1	-	3	769	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	190					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATCTCGAAGGAAAGAAAACT	0.368000														36			74		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815409	2815409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2815409C>T	uc002crk.3	+	10	5429	c.4880C>T	c.(4879-4881)cCa>cTa	p.P1627L	SRRM2_uc002crj.1_Missense_Mutation_p.P1531L|SRRM2_uc002crl.1_Missense_Mutation_p.P1627L|SRRM2_uc010bsu.1_Missense_Mutation_p.P1531L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1627	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTAAAGCTCCAGCCCCTCGG	0.567000														33			13		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247712513	247712513	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247712513G>A	uc001idf.3	+	0	167	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	7								p.R7R(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			TATCTCCTGCGAAAACTCAGG	0.463000														31			21		0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7360388	7360388	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7360388A>T	uc009zfu.2	+	11	1680	c.1100A>T	c.(1099-1101)aAg>aTg	p.K367M	PEX5_uc001qsw.3_Missense_Mutation_p.K367M|PEX5_uc010sgc.2_Missense_Mutation_p.K382M|PEX5_uc001qsu.3_Missense_Mutation_p.K330M|PEX5_uc010sgd.2_Missense_Mutation_p.K388M|PEX5_uc001qsv.3_Missense_Mutation_p.K359M	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	367					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CAGGATCCTAAGCACATGGAA	0.542000														109			18		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018433	1018433	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1018433A>G	uc001lsw.2	-	30	4419	c.4368T>C	c.(4366-4368)acT>acC	p.T1456T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1456	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTACTTGGAGTCACCAAGG	0.552000														425			12		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069201	82069201	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:82069201T>C	uc002fgv.3	+	0	344	c.172T>C	c.(172-174)Ttg>Ctg	p.L58L		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	58					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TTTTTGGGGCTTGATCCTCTT	0.517000														2			16		0	0	1	0	0
MKI67IP	84365	broad.mit.edu	37	2	122488508	122488508	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:122488508T>A	uc002tnk.3	-	3	602	c.525A>T	c.(523-525)aaA>aaT	p.K175N	MKI67IP_uc010fls.3_Missense_Mutation_p.K175N	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA.	175					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTTTAGCTAATTTCTTCCTGA	0.383000														39			9		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430525	149430525	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149430525G>A	uc003wfz.3	+	17	2878	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.V435M	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	828										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTCAGGAAGTGGCCACCAT	0.687000														4			5		0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152436	58152436	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:58152436A>G	uc001spx.2	+	3	1228	c.797A>G	c.(796-798)aAg>aGg	p.K266R	MARCH9_uc001spy.3_Missense_Mutation_p.K153R	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	266						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AATTATGACAAGACCAAGGAC	0.602000														13			5		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438157	196438157	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196438157C>T	uc001gtd.1	-	5	486	c.426G>A	c.(424-426)ttG>ttA	p.L142L	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Silent_p.L142L|KCNT2_uc001gtf.1_Silent_p.L142L|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.L142L|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	142						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAATTATTTCCAAGATGAAGG	0.318000														5			5		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884945	28884945	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28884945C>T	uc001iuf.3	+	6	982	c.894C>T	c.(892-894)gtC>gtT	p.V298V	WAC_uc001iud.3_Silent_p.V253V|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Silent_p.V253V|WAC_uc001iug.3_Intron|WAC_uc001iuh.3_Silent_p.V253V	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	298					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CATCTTCTGTCCCTGCACAGA	0.368000														46			42		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156722	22156722	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22156722C>T	uc021urr.1	-	3	1263	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCGCATTCTTCACATTTGTAG	0.388000														16			7		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438434	90438434	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:90438434A>C	uc001kfg.2	+	9	1307	c.1193A>C	c.(1192-1194)aAg>aCg	p.K398T	LIPF_uc001kfh.2_Missense_Mutation_p.K375T|LIPF_uc010qmt.2_Missense_Mutation_p.K408T|LIPF_uc010qmu.2_Missense_Mutation_p.K365T	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	398					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GAAGATAAAAAGTAGTTCTGG	0.318000														7			6		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185520	127185520	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:127185520G>A	uc004eum.3	-	0	863	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	222						cytoplasm|cytoskeleton		p.I222M(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCTCCAAGGCGATGTAGCACA	0.527000														4			87		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102248687	102248687	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102248687G>A	uc001krc.1	-	23	3318	c.3216C>T	c.(3214-3216)ccC>ccT	p.P1072P	SEC31B_uc010qpo.1_Silent_p.P1071P|SEC31B_uc001krd.1_Silent_p.P609P|SEC31B_uc001krf.1_Silent_p.P505P|SEC31B_uc001kre.1_Silent_p.P504P	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	1072	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GATGCTCTGGGGGCAGCTCCT	0.547000														2			46		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9580358	9580358	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9580358G>A	uc002mlp.1	-	7	687	c.477C>T	c.(475-477)atC>atT	p.I159I	ZNF560_uc010dwr.1_Silent_p.I53I	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	159	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCAGCCAAGAGATCAGACTGG	0.473000														32			8		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676054	73676054	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73676054A>C	uc001ouo.3	+	3	1217	c.466A>C	c.(466-468)Acc>Ccc	p.T156P		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	156					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTTTGGCTGCACCAAAAAAAT	0.562000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			33		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953383	56953383	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56953383C>T	uc002qne.3	-	6	1772	c.981G>A	c.(979-981)gaG>gaA	p.E327E	ZNF667_uc010etl.3_Silent_p.E109E|ZNF667_uc002qnd.3_Silent_p.E327E|ZNF667_uc010etm.3_Silent_p.E270E	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TAAAAGGATTCTCTAAATGGT	0.378000														104			41		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15960897	15960897	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:15960897T>C	uc002gpo.3	-	39	6592	c.6323A>G	c.(6322-6324)cAg>cGg	p.Q2108R	NCOR1_uc002gpn.3_Missense_Mutation_p.Q2005R|NCOR1_uc002gpl.3_Missense_Mutation_p.Q123R|NCOR1_uc002gpm.3_Missense_Mutation_p.Q628R|NCOR1_uc010vwb.2_Missense_Mutation_p.Q692R|NCOR1_uc010coy.3_Missense_Mutation_p.Q1016R|NCOR1_uc010vwc.2_Missense_Mutation_p.Q918R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2108	ID1 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGACAGACTGAGCCTGGGA	0.428000														123			22		0	0	1	0	0
RFESD	317671	broad.mit.edu	37	5	94991874	94991874	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:94991874C>T	uc003klg.3	+	5	670	c.494C>T	c.(493-495)tCc>tTc	p.S165F	RFESD_uc011cun.2_Missense_Mutation_p.S165F|RFESD_uc003klf.3_Missense_Mutation_p.S112F|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_001131066	NP_775498	Q8TAC1	RFESD_HUMAN	Homo sapiens Rieske (Fe-S) domain containing (RFESD), transcript variant 3, mRNA.	112							2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		AAGTGGTGCTCCAAAGGAATA	0.383000														18			20		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105346728	105346728	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105346728C>T	uc001yps.3	+	4	534	c.228C>T	c.(226-228)ccC>ccT	p.P76P	KIAA0284_uc010axb.3_Silent_p.P76P	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	146						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCTCGAACCCCAGGCCGGAGA	0.657000														31			17		0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601683	7601683	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7601683A>C	uc003mxr.3	+	4	580	c.521A>C	c.(520-522)aAa>aCa	p.K174T	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	174					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGACAAAGAAAAAGCGCTCT	0.398000														71			10		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898268	30898268	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30898268C>T	uc002wxq.3	+	1	868	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	KIF3B_uc010ztv.2_Missense_Mutation_p.L230F|KIF3B_uc010ztw.2_Missense_Mutation_p.L230F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	230	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGAGGTGGGCCTCGATGGTGA	0.517000														24			17		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832744	113832744	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113832744G>A	uc002tiu.3	+	4	337	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	IL1F10_uc002tiv.3_Missense_Mutation_p.E88K|IL1F10_uc002tiw.3_Missense_Mutation_p.E80K	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	88						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GAACATTGAGGAACTGTACAA	0.577000														103			170		0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107686576	107686576	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:107686576T>C	uc001pjq.3	-	1	647	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	SLC35F2_uc010rvu.2_Intron|SLC35F2_uc001pjs.3_Missense_Mutation_p.S76G	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	76					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TTGATAAAGCTCTGAAGCATG	0.398000														48			32		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32994048	32994048	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32994048G>A	uc001rlj.4	-	6	1717	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	PKP2_uc001rlk.4_Silent_p.P490P|PKP2_uc010skj.2_Silent_p.P490P	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	534					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACCCAGAAAAGGGGATGATGA	0.418000														75			78		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201533	132201533	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132201533G>A	uc002tst.2	-	0	935	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		AGCACCCGCAGGGACTCCTCC	0.567000														17			23		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207621671	207621671	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207621671C>T	uc002vbs.3	-	3	419	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.E122K|MDH1B_uc021vvm.1_Missense_Mutation_p.E24K	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	122					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGGGCTTCTTCCTCCTGCTCT	0.418000														32			21		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267283	67267283	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67267283T>G	uc001olx.3	-	6	1271	c.1082A>C	c.(1081-1083)gAg>gCg	p.E361A	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.E361A|PITPNM1_uc001olz.3_Missense_Mutation_p.E361A	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	361					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GAAGACCTCCTCACTGTCCGA	0.582000														56			15		0	0	1	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143884	1143884	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1143884C>T	uc010uuw.1	-	3	650	c.376G>A	c.(376-378)Ggc>Agc	p.G126S		NM_207419	NP_997302	P60827	C1QT8_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA.	126	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CTGTGCAGGCCCTCGCGCCGG	0.756000														15			5		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160667040	160667040	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160667040G>A	uc002ubb.4	-	31	4770	c.4696C>T	c.(4696-4698)Cat>Tat	p.H1566Y	LY75-CD302_uc010fos.3_Missense_Mutation_p.H1566Y|LY75-CD302_uc002ubc.4_Missense_Mutation_p.H1566Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1566	C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										aaCTCACCATGTTTTGAACAC	0.318000														39			69		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225324	53225324	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53225324C>T	uc001sbb.3	-	1	597	c.564G>A	c.(562-564)agG>agA	p.R188R	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	188	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGGTTGTTCCTGGTGACAC	0.612000														2			55		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36742782	36742782	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36742782A>C	uc003omr.1	-	9	760	c.693T>G	c.(691-693)acT>acG	p.T231T	CPNE5_uc003oms.1_Silent_p.T210T	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	231	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GAATGGAGAAAGTTTGCCAGA	0.517000														31			3		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32637595	32637595	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:32637595A>C	uc001mtv.3	-	14	1310	c.1266T>G	c.(1264-1266)acT>acG	p.T422T	CCDC73_uc001mtw.1_Silent_p.T412T	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	422										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCTTGCTCAGTATTATATT	0.284000														14			5		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906609	29906609	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:29906609C>T	uc010vec.2	-	4	1069	c.824G>A	c.(823-825)aGg>aAg	p.R275K	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.R205K|SEZ6L2_uc002dur.4_Missense_Mutation_p.R205K|SEZ6L2_uc002duq.4_Missense_Mutation_p.R275K|SEZ6L2_uc010ved.2_Missense_Mutation_p.R231K|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	275	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCACCGCCCCTTGGGACCCG	0.567000														46			66		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010148	35010148	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35010148C>T	uc003jjf.3	-	11	1538	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	AGXT2_uc003jje.1_Missense_Mutation_p.R85Q|AGXT2_uc011com.2_Missense_Mutation_p.R357Q	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	432					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R432Q(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACCTTTGCCTCGGACGTCTCC	0.448000														83			20		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239435	151239435	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:151239435G>A	uc003lut.3	-	3	674	c.387C>T	c.(385-387)gcC>gcT	p.A129A	GLRA1_uc003lur.3_Silent_p.A129A|GLRA1_uc003lus.3_Silent_p.A46A	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	129					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTTCTCGTTGGCAAAGAACA	0.532000														45			13		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126090374	126090374	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:126090374A>G	uc001lhp.3	-	7	1068	c.935T>C	c.(934-936)cTg>cCg	p.L312P	OAT_uc001lhr.3_Missense_Mutation_p.L174P|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	312					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	CTTAATGGTCAGCATGATGTC	0.502000														18			5		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90028617	90028617	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:90028617G>A	uc001tbh.3	-	3	906	c.725C>T	c.(724-726)tCa>tTa	p.S242L	ATP2B1_uc001tbg.3_Missense_Mutation_p.S242L	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	242					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACCAGTCAATGAGCTTTCATC	0.313000														1			24		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029806	219029806	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219029806G>A	uc021vwq.1	-	0	129	c.129C>T	c.(127-129)atC>atT	p.I43I	CXCR1_uc002vhc.3_Silent_p.I43I	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	43					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CATAGGCGATGATCACAACAT	0.498000														72			35		0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47376853	47376853	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47376853C>T	uc001nfb.1	-	4	964	c.741G>A	c.(739-741)aaG>aaA	p.K247K	MYBPC3_uc021qir.1_5'Flank|MYBPC3_uc021qis.1_5'Flank|SPI1_uc001nfc.1_Silent_p.K246K|SLC39A13_uc001nfd.3_5'Flank	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	246					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S247S(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		AGGTGAGCTTCTTCTTCACCT	0.697000														8			13		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003312	120003312	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:120003312A>G	uc002tlp.3	+	2	397	c.240A>G	c.(238-240)gcA>gcG	p.A80A	STEAP3_uc002tlq.3_Silent_p.A90A|STEAP3_uc002tlr.3_Silent_p.A80A|STEAP3_uc010fle.3_Silent_p.A80A	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	80					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AAGAGGAGGCAGTGAGCTCCC	0.602000														24			5		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155208012	155208012	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155208012T>G	uc001fjh.3	-	5	840	c.674A>C	c.(673-675)aAg>aCg	p.K225T	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Missense_Mutation_p.K176T|GBA_uc010pfw.2_Missense_Mutation_p.K112T|GBA_uc001fjl.3_Missense_Mutation_p.K225T|GBA_uc001fjk.3_Missense_Mutation_p.K225T|GBA_uc010pfy.2_Missense_Mutation_p.K138T|GBA_uc009wqk.2_Missense_Mutation_p.K138T	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	225					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCCATTGGTCTTGAGCCAAGT	0.567000									Gaucher disease type I					36			4		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960647	150960647	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150960647G>A	uc001ewa.2	+	10	1248	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	260					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTCAGGTGGCTCTGCTCGG	0.547000														40			52		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7230808	7230808	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7230808G>A	uc002gga.1	-	1	685	c.678C>T	c.(676-678)gcC>gcT	p.A226A	GPS2_uc002ggb.1_Silent_p.A226A|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	212					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.Q226fs*30(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTTCAGTGGGGGCCAAGGGCT	0.622000														4			125		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233651924	233651924	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233651924A>C	uc002vtj.4	+	10	930	c.663A>C	c.(661-663)tcA>tcC	p.S221S	GIGYF2_uc010zmj.1_Silent_p.S199S|GIGYF2_uc002vtg.2_Silent_p.S199S|GIGYF2_uc002vti.4_Silent_p.S199S|GIGYF2_uc002vtk.4_Silent_p.S199S|GIGYF2_uc002vth.4_Silent_p.S199S|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Silent_p.S30S	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	199	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTATACGCTCAGAAAGTGAAA	0.428000														49			5		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666917	12666917	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:12666917C>T	uc002gno.2	+	13	3216	c.2917C>T	c.(2917-2919)Ctc>Ttc	p.L973F	MYOCD_uc002gnn.2_Missense_Mutation_p.L925F|MYOCD_uc002gnq.2_Missense_Mutation_p.L649F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	925					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTCACTGATCTCAATTTGAA	0.522000														5			54		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55942327	55942327	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55942327C>T	uc003pcs.3	-	18	2089	c.1857_splice	c.e18+1	p.K619_splice	COL21A1_uc010jzz.3_Splice_Site_p.K4_splice|COL21A1_uc011dxg.2_Splice_Site_p.K4_splice|COL21A1_uc011dxh.2_Splice_Site_p.K4_splice|COL21A1_uc003pcr.3_Splice_Site	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	619	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATACTTACCTTTTGGCCCA	0.313000														7			6		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35074167	35074167	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35074167A>T	uc003zwb.1	-	13	2299	c.1807T>A	c.(1807-1809)Tct>Act	p.S603T	VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc010mkj.1_Missense_Mutation_p.S345T	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	603			S -> F (in dbSNP:rs17878854).		DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCACGATCAGAGGGACGGATC	0.517000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						44			15		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617549	617549	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:617549C>T	uc001lql.3	-	14	2607	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Silent_p.K780K|CDHR5_uc009ycd.3_Silent_p.K774K|CDHR5_uc001lqk.3_Silent_p.K586K|CDHR5_uc009ycc.3_Silent_p.K614K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	780					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCCGCCGCTCCTTGGTCAGGA	0.736000														30			13		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242427	126242427	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126242427C>T	uc003ifj.4	+	0	4861	c.4861C>T	c.(4861-4863)Ctt>Ttt	p.L1621F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1621	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCATCATTCTTCAGGGCCT	0.428000														52			19		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182874720	182874720	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:182874720T>G	uc001gpu.3	-	6	1532	c.1247A>C	c.(1246-1248)aAt>aCt	p.N416T	SHCBP1L_uc001gpv.3_Missense_Mutation_p.N297T|SHCBP1L_uc010pnz.2_Missense_Mutation_p.N274T|SHCBP1L_uc001gpw.3_Missense_Mutation_p.N136T	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	488										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ACTATAACAATTATCCAAAGC	0.343000														59			7		0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632695	24632695	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24632695T>C	uc001wmq.3	+	3	1293	c.473T>C	c.(472-474)gTg>gCg	p.V158A	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.V56A	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	158					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGTCCCTCTGTGCTCCAGGAC	0.537000														73			6		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186072630	186072630	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186072630G>A	uc001grq.1	+	68	10829	c.10600G>A	c.(10600-10602)Gaa>Aaa	p.E3534K	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3534	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGATCTGAAGAACATGAAGA	0.353000														62			13		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702224	179702224	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179702224G>A	uc002une.2	-	22	3840	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	CCDC141_uc002unf.1_Missense_Mutation_p.S720F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	666							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGGCTGAGGGAGGAGCTGAC	0.582000														15			15		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893246	36893246	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36893246A>G	uc003cgj.3	-	13	4967	c.4719T>C	c.(4717-4719)gaT>gaC	p.D1573D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1573					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAGGACATCATCAAATTCTA	0.383000														20			4		0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10521636	10521636	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10521636A>G	uc001arj.3	-	5	1005	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L	DFFA_uc001ark.3_3'UTR	NM_004401	NP_004392	O00273	DFFA_HUMAN	Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide (DFFA), transcript variant 1, mRNA.	303					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGAGAATGCAAGCTCTGCGTC	0.592000														52			17		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46313394	46313395	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:46313394_46313395GT>AA	uc002rut.3	+	10	1682_1683	c.1485_1486GT>AA	c.(1483-1488)atgttt>atAAtt	p.495_496MF>II		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	495	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.L494fs*40(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAGACCTCATGTTTCAGATTCA	0.495000														53			17		0	0	1	0	0
PSMD7	5713	broad.mit.edu	37	16	74336181	74336181	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:74336181A>C	uc002fcq.3	+	4	569	c.429A>C	c.(427-429)gaA>gaC	p.E143D	PSMD7_uc010vmr.2_Missense_Mutation_p.E66D	NM_002811	NP_002802	P51665	PSD7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (PSMD7), mRNA.	143					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CAGTGGAAGAAGTCCATGATG	0.418000														24			12		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937234	49937234	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49937234G>A	uc001ruh.1	+	4	1016	c.756G>A	c.(754-756)cgG>cgA	p.R252R	KCNH3_uc010smj.1_Silent_p.R192R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	252					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCACAGCACGGGAGCCCAGTG	0.657000														3			25		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212322	26212322	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:26212322C>T	uc022buc.1	+	0	359	c.359C>T	c.(358-360)tCa>tTa	p.S120L	MAGEB6_uc004dbr.3_Missense_Mutation_p.S120L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	120	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCAGGTGTTTCAGGCTCAAAA	0.542000														3			51		0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4024052	4024052	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4024052A>C	uc002lzg.3	+	2	483	c.473A>C	c.(472-474)aAg>aCg	p.K158T		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	158	PINIT.				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.E157*(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAACGAGAAGCTTCAGGAG	0.632000														77			15		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48528917	48528917	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:48528917C>T	uc003toq.2	+	47	13291	c.13267C>T	c.(13267-13269)Cct>Tct	p.P4423S	ABCA13_uc010kys.1_Missense_Mutation_p.P1498S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.P153S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4423					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCACCTACCCCCTACTGTGGA	0.343000														14			8		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052228	17052228	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:17052228A>G	uc011awc.2	+	2	1462	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.K338E	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	464	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCGAGCTCTTAAAATGGGTTG	0.428000														83			9		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:107845215C>T	uc003hyi.3	-	3	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	226	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TGGAAAATTTCCAGCCCATGA	0.493000														34			66		0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18250829	18250829	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18250829A>C	uc002gta.3	-	4	690	c.500T>G	c.(499-501)tTt>tGt	p.F167C	SHMT1_uc002gtb.3_Missense_Mutation_p.F167C|SHMT1_uc010vxt.2_Missense_Mutation_p.F29C|SHMT1_uc002gtd.1_Missense_Mutation_p.F167C|SHMT1_uc010vxu.1_Missense_Mutation_p.F167C	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	167					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CATAGATTCAAAGAAGATGGA	0.517000														184			7		0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	712435	712435	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:712435A>T	uc003zgl.1	+	6	2318	c.1669A>T	c.(1669-1671)Aat>Tat	p.N557Y	KANK1_uc003zgm.3_Missense_Mutation_p.N557Y|KANK1_uc003zgn.1_Missense_Mutation_p.N557Y|KANK1_uc003zgo.1_Missense_Mutation_p.N557Y|KANK1_uc003zgp.1_Missense_Mutation_p.N557Y|KANK1_uc003zgq.2_Missense_Mutation_p.N399Y|KANK1_uc003zgr.1_Missense_Mutation_p.N399Y|KANK1_uc003zgs.1_Missense_Mutation_p.N399Y	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	557					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGAATGTAAGAATAAAGTCGT	0.512000														79			8		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943723	11943723	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11943723A>C	uc002msp.1	+	3	1888	c.1732A>C	c.(1732-1734)Aac>Cac	p.N578H	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATGTGGGAAACCCTTCGGA	0.458000														74			5		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964578	123964578	+	Silent	SNP	G	A	A	rs140865098		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:123964578G>A	uc022bag.1	+	0	828	c.828G>A	c.(826-828)acG>acA	p.T276T	ZHX2_uc003ypk.1_Silent_p.T276T	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	276	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAATGCCACGATGATCAACT	0.498000														109			34		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488047	24488047	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:24488047G>A	uc003jgr.2	-	11	2598	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	698					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCCTCCGAGGAATAAATAAC	0.502000										HNSCC(23;0.051)				24			46		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463594	26463594	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:26463594C>T	uc001mqt.4	+	1	321	c.176C>T	c.(175-177)tCa>tTa	p.S59L	ANO3_uc010rdr.2_Missense_Mutation_p.S43L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	59						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCTTCCAGTCAACCGAGAGT	0.463000														120			63		0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112066525	112066525	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:112066525A>C	uc003dyw.3	+	4	761	c.617A>C	c.(616-618)aAt>aCt	p.N206T	CD200_uc010hqd.1_Missense_Mutation_p.N65T|CD200_uc003dyx.3_Missense_Mutation_p.N181T|CD200_uc003dyz.3_Missense_Mutation_p.N107T|CD200_uc003dyy.3_Missense_Mutation_p.N65T	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	181	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GGGATTGAAAATAGTACAGTG	0.512000														52			8		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187118751	187118751	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187118751T>G	uc003iyw.4	+	4	973	c.669T>G	c.(667-669)gtT>gtG	p.V223V		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	223					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TCCGTGCAGTTTATAGGTAAA	0.318000														33			3		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95482669	95482669	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95482669G>A	uc004asp.1	-	3	1032	c.975C>T	c.(973-975)ctC>ctT	p.L325L	BICD2_uc004aso.1_Silent_p.L325L	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	325					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGCGGTGCGAGGCCCTCCT	0.617000														57			15		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701141	192701141	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:192701141G>A	uc002utb.3	-	1	1141	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	262						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACAGATACGATCTTTGTCC	0.418000														137			61		0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220549	146220549	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:146220549G>A	uc003zey.3	+	0	299	c.278G>A	c.(277-279)gGg>gAg	p.G93E	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		ACAACCAAGGGGAAATTTGCC	0.458000														19			18		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136160	74136160	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74136160G>A	uc002jqx.3	-	1	672	c.317C>T	c.(316-318)gCc>gTc	p.A106V	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	106					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGGGTGGGGCCTGCAGCCC	0.726000														1			24		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26581844	26581844	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26581844A>G	uc001bls.1	+	3	522	c.391A>G	c.(391-393)Aga>Gga	p.R131G	CEP85_uc001blr.3_Missense_Mutation_p.R131G|CEP85_uc010ofa.1_Missense_Mutation_p.R80G	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	131						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGGAATGACAAGAAATGGAGA	0.468000														77			61		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301493	140301493	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:140301493C>T	uc010lnk.3	-	2	1225	c.705G>A	c.(703-705)agG>agA	p.R235R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.R235R|DENND2A_uc003vvw.3_Silent_p.R235R|DENND2A_uc003vvx.3_Silent_p.R235R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	235										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ATGAACCTTTCCTGTCCTCCA	0.617000														80			91		0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790449	194790449	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:194790449C>T	uc003fum.4	-	3	1285	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	XXYLT1_uc003ful.3_Missense_Mutation_p.D190N|XXYLT1_uc003fuk.3_Missense_Mutation_p.D187N	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	393						integral to membrane	transferase activity, transferring glycosyl groups										AGCGCCTAGTCCTCCGGGATG	0.622000														221			49		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78166352	78166352	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78166352G>A	uc002jxw.1	+	8	1484	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.R430R|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.R193R|CARD14_uc010dhu.1_Silent_p.R228R	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	430					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGAAGCAGCGGCTGGTGCGGA	0.632000														52			25		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32712786	32712786	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32712786T>G	uc010ezu.3	+	40	8020	c.7886T>G	c.(7885-7887)cTt>cGt	p.L2629R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2629					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACCAGCCAGCTTATTATACAG	0.358000														74			9		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74397134	74397134	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74397134G>A	uc002jrm.4	-	5	917	c.852C>T	c.(850-852)ccC>ccT	p.P284P	UBE2O_uc002jrn.4_Silent_p.P284P|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	284							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGCTGAGCACGGGCTTGACAC	0.587000														1			20		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270404	53270404	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53270404T>G	uc002qab.4	-	2	891	c.605A>C	c.(604-606)aAg>aCg	p.K202T	ZNF600_uc021uyz.1_Missense_Mutation_p.K202T	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAGGTATTGCTTGTGATTAAA	0.393000														154			18		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746015	156746016	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156746015_156746016GA>AC	uc021xgh.1	+	11	1606_1607	c.1492_1493GA>AC	c.(1492-1494)gaa>ACa	p.E498T	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	90										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAAGAAATTGAAAATCTTAAA	0.337000														0			48		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103428225	103428225	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103428225C>T	uc001dum.3	-	38	3362	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	COL11A1_uc001duk.3_Missense_Mutation_p.G199E|COL11A1_uc001dul.3_Missense_Mutation_p.G1003E|COL11A1_uc001dun.3_Missense_Mutation_p.G964E|COL11A1_uc009weh.3_Missense_Mutation_p.G887E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1003	Triple-helical region.				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)		ACCTTCTTTTCCTGCAGCACC	0.473000														71			20		0	0	1	0	0
C20orf160	140706	broad.mit.edu	37	20	30610510	30610510	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30610510C>T	uc002wxf.2	+	5	994	c.981C>T	c.(979-981)atC>atT	p.I327I	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	327										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TCTTCCAGATCATCTACGGGG	0.582000														50			41		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120166326	120166326	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:120166326T>G	uc001txj.2	-	27	3628	c.3572A>C	c.(3571-3573)aAa>aCa	p.K1191T	CIT_uc001txh.2_Missense_Mutation_p.K683T|CIT_uc001txi.2_Missense_Mutation_p.K1149T	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1149	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAGCCTCTGTTTGAGCTCTCG	0.428000														98			84		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158647503	158647503	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158647503T>A	uc001fst.1	-	6	1133	c.934A>T	c.(934-936)Aat>Tat	p.N312Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	312					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAGCAAGATTTCTCTCAAGT	0.463000														33			8		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950496	38950496	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38950496C>T	uc021wvy.1	-	8	1490	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	431					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACCTCCTTTTCCTCCTTTAAC	0.532000														76			37		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355623	10355623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10355623C>T	uc002gmn.3	-	26	3484	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1125					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCGATTTCCTCCTCCAGC	0.542000														59			24		0	0	1	0	0
GOSR1	9527	broad.mit.edu	37	17	28811246	28811246	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:28811246C>T	uc002hfe.3	+	2	193	c.167C>T	c.(166-168)cCc>cTc	p.P56L	GOSR1_uc002hfd.3_Missense_Mutation_p.P54L|GOSR1_uc002hff.3_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.P56L	NM_004871	NP_001007025	O95249	GOSR1_HUMAN	Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA.	56					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GATACAACACCCCTTTTAAAT	0.343000														7			53		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031484	109031484	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:109031484G>A	uc003dxo.3	-	2	336	c.89C>T	c.(88-90)cCa>cTa	p.P30L		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	30						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTTAACTGGCACCAGTGT	0.408000														8			68		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017531	200017531	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200017531C>T	uc001gvb.3	+	4	901	c.695C>T	c.(694-696)cCt>cTt	p.P232L	NR5A2_uc001gvc.3_Missense_Mutation_p.P186L|NR5A2_uc009wzh.3_Missense_Mutation_p.P192L|NR5A2_uc010pph.2_Missense_Mutation_p.P160L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	232					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCCTTGCCTCCTACAGACTAT	0.507000														89			63		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800331	27800331	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27800331A>G	uc002rkz.4	+	0	943	c.892A>G	c.(892-894)Aca>Gca	p.T298A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	298										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCAAAGCCAACAAGTCAAGC	0.463000														56			20		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70715702	70715702	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70715702A>C	uc001des.3	+	10	1214	c.1090A>C	c.(1090-1092)Aaa>Caa	p.K364Q	SRSF11_uc001det.3_Missense_Mutation_p.K364Q|SRSF11_uc001deu.2_Missense_Mutation_p.K371Q|SRSF11_uc001dev.3_Missense_Mutation_p.K174Q|SRSF11_uc001dew.3_Missense_Mutation_p.K304Q	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	364					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						TCCTAAAAGAAAATTGTCCCG	0.373000														61			7		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522251	144522251	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144522251G>A	uc003yyd.2	-	10	2804	c.2775C>T	c.(2773-2775)ccC>ccT	p.P925P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	925					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCGGACCCTGGGCTGGGCTC	0.687000														20			4		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475399	24475399	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:24475399T>G	uc003ned.1	-	4	502	c.391A>C	c.(391-393)Agc>Cgc	p.S131R	GPLD1_uc010jpr.1_Silent_p.S2S|GPLD1_uc010jps.1_Missense_Mutation_p.S131R|GPLD1_uc003nee.3_Missense_Mutation_p.S131R	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	131						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						CTATGCCAGCTGACATCTGCC	0.463000														63			13		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266684	48266684	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48266684C>T	uc001ngs.1	+	0	29	c.29C>T	c.(28-30)tCt>tTt	p.S10F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGGTACTTTCTCCCAACCAG	0.428000														48			37		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456053	5456053	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5456053T>G	uc002mca.4	+	0	628	c.551T>G	c.(550-552)aTc>aGc	p.I184S		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	184	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGGCGGCCATCGTGCACAAC	0.657000														97			6		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3157801	3157801	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3157801C>T	uc002lxf.2	+	5	1078	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	274					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ATCCGTCATCCTCTTTCTCAA	0.493000														107			70		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201478607	201478607	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201478607G>A	uc002uvx.3	+	14	1630	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	AOX1_uc010zhf.2_Missense_Mutation_p.G66E|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	510					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCGCCAGGTGGGAAAGTGGAG	0.463000														31			23		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488840	31488840	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31488840C>T	uc002ecd.2	+	10	1363	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	TGFB1I1_uc021tgx.1_Silent_p.F426F|TGFB1I1_uc002ece.2_Silent_p.F426F	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	443	LIM zinc-binding 4.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGGGGTCCTTCCAGGAGCGCG	0.716000														7			4		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079989	29079989	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29079989C>A	uc011dll.2	+	0	322	c.322C>A	c.(322-324)Ctc>Atc	p.L108I		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTACTTTGTTCTCGCACTGGG	0.502000														124			112		2.99567e-70	3.02424e-70	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140850222	140850222	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140850222C>T	uc004cog.3	+	7	1288	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CACNA1B_uc022bqn.1_Silent_p.I381I|CACNA1B_uc011mfd.2_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	381	Binding to the beta subunit (By similarity).				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)	AGCAGCAGATCGAGCGAGAGC	0.637000														8			6		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33695655	33695655	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33695655C>T	uc010edh.3	+	3	465	c.372C>T	c.(370-372)atC>atT	p.I124I	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	124	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCTCCGCCATCCCACCTGCCT	0.657000														151			7		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36484943	36484943	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36484943G>A	uc003cgh.1	+	1	238	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.E67K	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	67					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.E67K(2)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AACCAACAGCGAAGACATGAA	0.532000														16			23		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21981964	21981964	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21981964C>T	uc001rfh.3	-	28	3617	c.3597G>A	c.(3595-3597)ctG>ctA	p.L1199L	ABCC9_uc001rfi.1_Silent_p.L1199L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1199	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCGTCAGTTCCAGCATACGTT	0.413000														47			33		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449433	104449433	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104449433G>A	uc004bbp.2	-	1	1350	c.749C>T	c.(748-750)gCt>gTt	p.A250V	GRIN3A_uc004bbq.1_Missense_Mutation_p.A250V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	250					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTGACATCAGCATCAGAACT	0.398000														35			44		0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520986	105520986	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:105520986A>C	uc010swr.2	+	12	1205	c.1118A>C	c.(1117-1119)aAa>aCa	p.K373T	KIAA1033_uc001tld.3_Missense_Mutation_p.K373T|KIAA1033_uc010sws.2_Missense_Mutation_p.K185T	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	373					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GCAGCTGCCAAACTGCTAGAC	0.363000														23			11		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697704	55697704	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55697704G>A	uc002qjq.3	-	15	2740	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	PTPRH_uc010esv.3_Silent_p.F711F	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	889	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTTGCAATGAACTCCTGGG	0.622000														71			35		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158540165	158540165	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158540165G>C	uc003qrc.2	-	11	1346	c.1204C>G	c.(1204-1206)Ctt>Gtt	p.L402V	SERAC1_uc003qrb.2_Missense_Mutation_p.L130V	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	402					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCTCCCATAAGGCCATGAATA	0.428000														9			3		0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021441	181021441	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181021441T>C	uc001goq.2	+	4	836	c.675T>C	c.(673-675)caT>caC	p.H225H	MR1_uc001gor.2_Silent_p.H180H|MR1_uc001gos.2_Intron|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GCAAAGCTCATGGCTTTTACC	0.423000														37			10		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43804333	43804333	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:43804333A>G	uc002rsw.4	-	9	1217	c.865T>C	c.(865-867)Tgg>Cgg	p.W289R	THADA_uc002rsx.4_Missense_Mutation_p.W289R|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.W289R|THADA_uc002rtc.4_Missense_Mutation_p.W289R|THADA_uc002rtd.3_Missense_Mutation_p.W289R	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	289							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCATAAACCACTCGGGGACA	0.473000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			6		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127257	45127257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:45127257G>A	uc003com.3	-	8	2519	c.2384C>T	c.(2383-2385)cCt>cTt	p.P795L		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	795						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGGGAGCGAGGAGGTGGCTC	0.587000														29			33		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327182	150327182	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150327182C>T	uc022apv.1	-	1	529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	GIMAP6_uc003whn.3_Missense_Mutation_p.E17K|GIMAP6_uc003whm.3_Missense_Mutation_p.E17K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	17							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGACAGCTCTTCTGGGGGA	0.438000														95			74		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47238001	47238001	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47238001C>T	uc002ion.2	+	6	1003	c.944C>T	c.(943-945)cCa>cTa	p.P315L	B4GALNT2_uc010wlt.1_Missense_Mutation_p.P229L|B4GALNT2_uc010wlu.1_Missense_Mutation_p.P255L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	315					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GACCCTGGACCAGGTAAGGCC	0.532000														9			134		0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958974	10958974	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10958974G>A	uc010shh.2	-	0	606	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	202					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTACTAAAAGGAAAAATGATA	0.373000														23			25		0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89855890	89855891	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:89855890_89855891GG>AA	uc003pmz.3	+	0	122_123	c.27_28GG>AA	c.(25-30)gtggaa>gtAAaa	p.E10K		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	10							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCGGCCCGTGGAAGGGGGCGC	0.757000														2			11		0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50923208	50923208	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50923208A>G	uc002psd.3	+	1	54	c.29A>G	c.(28-30)gAc>gGc	p.D10G	SPIB_uc021uyc.1_5'UTR|SPIB_uc002pse.3_Missense_Mutation_p.D10G|SPIB_uc010ycc.2_5'UTR	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	10	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCAGGCTCGACGGGCCACAC	0.647000														13			6		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992776	66992776	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:66992776G>A	uc003xvs.1	+	4	789	c.498G>A	c.(496-498)atG>atA	p.M166I	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	166					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGTCTGACATGGAAAAAGGTG	0.547000														6			3		0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82039955	82039955	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:82039955A>G	uc001kbw.3	-	4	778	c.523T>C	c.(523-525)Tgg>Cgg	p.W175R		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	175					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGCCGCAGCCAGGGGAGGAGG	0.567000														35			27		0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960884	29960884	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:29960884G>A	uc002wvr.3	+	1	316	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	95					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACTACTTTGAAGTAAGCAG	0.468000														38			33		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654980	31654980	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:31654980A>G	uc002ynv.3	-	0	297	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	91						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGCACAGAGGAGTTTGACGGG	0.572000														65			14		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462918	62462918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:62462918C>T	uc001xfu.1	+	0	378	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	SYT16_uc010tsd.1_Nonsense_Mutation_p.Q61*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	61										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGATAATATTCAGATTCAGGA	0.373000														57			53		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059834	7059834	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7059834C>T	uc001mfb.1	+	1	340	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	6	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATTCATCATCATCTTCTTTC	0.373000														70			25		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872253	237872253	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237872253G>A	uc001hyl.1	+	68	10117	c.9997G>A	c.(9997-9999)Gtg>Atg	p.V3333M	RYR2_uc010pxz.1_Missense_Mutation_p.V288M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3333					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)			GGCAGCTACGGTGGTGTCTGA	0.473000														12			16		0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63329721	63329721	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:63329721C>T	uc001dat.3	+	10	1456	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	ATG4C_uc001dau.3_Missense_Mutation_p.S423F	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	423					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AATGGTCATTCCAGAGACTAT	0.313000														24			18		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141356240	141356240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141356240C>T	uc002tvj.1	-	42	8126	c.7154G>A	c.(7153-7155)gGa>gAa	p.G2385E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2385					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2385R(1)|p.L2384P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCAATTTTTCCTAGACTGCC	0.373000										TSP Lung(27;0.18)				17			13		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367900	37367900	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:37367900A>C	uc003cgv.3	+	13	4883	c.4523A>C	c.(4522-4524)aAg>aCg	p.K1508T	GOLGA4_uc010hgr.2_Missense_Mutation_p.K1069T|GOLGA4_uc003cgw.3_Missense_Mutation_p.K1530T|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.K1389T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1508	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GACAAGAGCAAGATGGAGAAA	0.323000														33			21		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26886187	26886187	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:26886187A>G	uc003jgs.1	-	9	1687	c.1518T>C	c.(1516-1518)atT>atC	p.I506I	CDH9_uc011cnv.1_Silent_p.I99I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	506	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGACAGTCTGAATCAACTGAA	0.338000														134			14		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178480	38178480	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38178480C>T	uc002rqn.2	+	1	248	c.122C>T	c.(121-123)tCt>tTt	p.S41F	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						CCAAGTATATCTCTTGGTCAT	0.413000														21			38		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481818	38481818	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38481818C>T	uc010ive.1	-	19	3505	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E	LIFR_uc003jli.2_Missense_Mutation_p.G1058E	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	1058					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCATGGACTTCCAAATGAGAC	0.413000			T	PLAG1	salivary adenoma									37			131		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674128	140674129	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140674128_140674129CC>TT	uc011mfc.2	+	13	2271_2272	c.2234_2235CC>TT	c.(2233-2235)tcc>tTT	p.S745F	EHMT1_uc004coa.3_Missense_Mutation_p.S745F|EHMT1_uc004cob.1_Missense_Mutation_p.S714F	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	745					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGTACTTCTCCGCCAGGCAAG	0.594000														37			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249226	238249226	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238249226A>G	uc002vwl.2	-	37	8618	c.8333T>C	c.(8332-8334)gTg>gCg	p.V2778A	COL6A3_uc002vwo.2_Missense_Mutation_p.V2572A|COL6A3_uc010znj.1_Missense_Mutation_p.V2171A|COL6A3_uc002vwj.2_Missense_Mutation_p.V159A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2778	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)		CTTGATGTTCACCTTCCTGCC	0.567000														61			6		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67932802	67932802	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:67932802C>T	uc004dxb.3	+	2	340	c.126C>T	c.(124-126)ttC>ttT	p.F42F	STARD8_uc004dxa.3_5'UTR|STARD8_uc004dxc.4_5'UTR	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAACAGGATTCCCTCAGTATG	0.478000														0			7		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345534	92345534	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:92345534C>T	uc010tif.2	+	2	785	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	140						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCTGCTTCGGTTCAGGAG	0.408000														54			27		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	A	A	rs150474449		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:89911136G>A	uc001pdf.4	+	15	1818	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.R537Q|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	570	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTCAATTACGAGGAGCACTG	0.348000														7			34		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2512522	2512522	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2512522C>T	uc002cqh.3	+	6	888	c.857C>T	c.(856-858)tCg>tTg	p.S286L	C16orf59_uc002cqg.2_Missense_Mutation_p.S119L|C16orf59_uc002cqi.3_Missense_Mutation_p.S119L|C16orf59_uc010uwb.2_Missense_Mutation_p.S119L	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	286										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GAGGAGCTCTCGGCAGGTCAG	0.687000														6			12		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222114	10222114	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10222114T>G	uc002gmk.1	-	26	3821	c.3731A>C	c.(3730-3732)aAg>aCg	p.K1244T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K1244N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TACCTTTGACTTGGAGAGAGC	0.557000														71			14		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242027813	242027813	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242027813T>G	uc002wah.1	+	30	4239	c.4239T>G	c.(4237-4239)tcT>tcG	p.S1413S	SNED1_uc002waj.1_Silent_p.S439S	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1413					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGGAGAAATCTTAAGGTACGT	0.507000														66			13		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905767	38905767	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38905767G>A	uc021yzh.1	+	77	11690	c.11581G>A	c.(11581-11583)Gaa>Aaa	p.E3861K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3644K|DNAH8_uc003oog.1_Missense_Mutation_p.E93K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTAGATGACGAATCTCTCAT	0.423000														61			18		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1581861	1581861	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1581861A>C	uc002fte.3	-	12	1919	c.1805T>G	c.(1804-1806)aTt>aGt	p.I602S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	602						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCACATGCGAATCTGTCGCAT	0.428000														122			22		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220138	50220138	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50220138T>G	uc003cyj.3	+	8	1023	c.825T>G	c.(823-825)ctT>ctG	p.L275L	SEMA3F_uc003cyk.3_Silent_p.L244L	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	275	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ATGATAAGCTTTACTTCTTCT	0.612000														87			26		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7804747	7804747	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:7804747G>C	uc003jdz.1	+	21	2892	c.2825G>C	c.(2824-2826)gGc>gCc	p.G942A	ADCY2_uc011cmo.1_Missense_Mutation_p.G762A|ADCY2_uc010itm.1_Missense_Mutation_p.G138A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	942					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AAGACCATTGGCAGCACATAC	0.522000														57			21		0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243581	180243581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180243581G>A	uc001goe.2	+	5	1272	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGGGCAGGGAGTAAGCCAG	0.572000														239			59		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24936034	24936034	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:24936034C>T	uc001mqs.3	+	6	746	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	LUZP2_uc009yif.3_Nonsense_Mutation_p.Q72*|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	158						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAAAAAAATCCAAGCCCAGCT	0.343000														11			17		0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31627330	31627330	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31627330G>A	uc003nvm.1	-	0	1220	c.395C>T	c.(394-396)cCt>cTt	p.P132L		NM_021184	NP_067007	O95873	CF047_HUMAN	Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.	132										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TCCCCCTTCAGGGGACACCCC	0.632000														41			33		0	0	1	0	0
DOM3Z	1797	broad.mit.edu	37	6	31937788	31937788	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31937788A>C	uc003nyp.1	-	6	1390	c.1057T>G	c.(1057-1059)Ttc>Gtc	p.F353V	DOM3Z_uc003nyq.1_Missense_Mutation_p.F94V|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	353							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCCCAAGAGAAGAGATGAACG	0.587000														63			11		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12958748	12958748	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:12958748T>A	uc021qdx.1	+	12	1880	c.1260T>A	c.(1258-1260)atT>atA	p.I420I	TEAD1_uc001mkk.4_Silent_p.I324I|TEAD1_uc009ygl.3_Silent_p.I241I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	420	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AACATCATATTTACAGGCTTG	0.378000														46			7		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83021895	83021895	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83021895T>C	uc003uhy.2	-	13	2264	c.1643A>G	c.(1642-1644)tAc>tGc	p.Y548C	SEMA3E_uc022agy.1_Missense_Mutation_p.Y488C	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	548					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCCTGTTGGGTAATACCGGGA	0.443000														48			12		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158259881	158259881	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158259881A>G	uc001fru.3	+	0	319	c.27A>G	c.(25-27)ctA>ctG	p.L9L	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	9					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTCTGCTGCTAGCTCTTCTTC	0.468000														79			14		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22835217	22835217	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22835217C>T	uc001bft.2	+	8	2203	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	ZBTB40_uc001bfu.2_Silent_p.F564F|ZBTB40_uc009vqi.1_Silent_p.F452F|ZBTB40_uc001bfv.1_Silent_p.F193F	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	564					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATGCTTTCTTCCGGGCAGGTA	0.527000														50			13		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100188359	100188359	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100188359A>G	uc001ygo.3	+	11	1132	c.1132A>G	c.(1132-1134)Acc>Gcc	p.T378A	CYP46A1_uc001ygp.3_Missense_Mutation_p.T225A	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	378					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAAGAGGAGACCTTGATTGA	0.622000														68			14		0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101818595	101818595	+	RNA	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:101818595A>T	uc004ejf.1	+	7		c.1065A>T								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						CTTGTGCGACAACAAACTGTA	0.443000														0			11		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3251057	3251057	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3251057T>G	uc002lxm.3	+	1	371	c.334T>G	c.(334-336)Ttg>Gtg	p.L112V	CELF5_uc010dtj.2_Missense_Mutation_p.L112V|CELF5_uc002lxl.2_Missense_Mutation_p.L112V|CELF5_uc010xhg.2_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	112	RRM 1.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCAGAAGACCTTGCCCGGAGT	0.607000														55			12		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023761	18023761	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18023761C>T	uc001ban.3	+	28	3885	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	ARHGEF10L_uc001bao.3_Silent_p.S1203S|ARHGEF10L_uc001bap.3_Silent_p.S1198S|ARHGEF10L_uc001baq.3_Silent_p.S1003S|ARHGEF10L_uc010ocs.2_Silent_p.S1015S|ARHGEF10L_uc001bar.3_Silent_p.S945S|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.S266S	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1242					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCATCATCTCCGGCGGGCAGG	0.682000														77			63		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134536	126134536	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:126134536G>A	uc004bnx.1	+	8	2609	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G	CRB2_uc004bnw.1_Silent_p.G839G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	839	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATTTCACGGGGCCTACGTGTG	0.612000														27			47		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307482	54307482	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:54307482C>T	uc021smr.1	+	0	2382	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	UNC13C_uc021sms.1_Silent_p.F794F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	794					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTTCAGCTTCCCAAAATTTG	0.438000														3			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063986	9063986	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9063986C>T	uc002mkp.3	-	2	23664	c.23460G>A	c.(23458-23460)agG>agA	p.R7820R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7822	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCTGAATCCTCCTAGTCT	0.542000														83			35		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716881	48716881	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:48716881T>G	uc003cun.3	-	8	1593	c.1499A>C	c.(1498-1500)aAa>aCa	p.K500T	NCKIPSD_uc003cum.3_Missense_Mutation_p.K493T	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	500					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTAACAGAGTTTCTGGTGGTC	0.557000														33			20		0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123536882	123536882	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:123536882C>T	uc003ies.2	-	2	360	c.315G>A	c.(313-315)agG>agA	p.R105R	IL21_uc010int.3_Silent_p.R105R	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	98					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AAGGTGGTTTCCTCTTCAGCT	0.363000														41			18		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322420	167322420	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167322420G>A	uc002udu.2	-	6	872	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	248					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AATATGCTCAGAAAAAACAGA	0.408000														31			10		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344360	344360	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:344360G>A	uc001qic.2	-	6	817	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	SLC6A13_uc009zdj.2_Missense_Mutation_p.L243F|SLC6A13_uc010sdl.2_Missense_Mutation_p.L151F|SLC6A13_uc010sdm.1_Missense_Mutation_p.L124F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	243					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCAGCATGAGGTAAGGAAAT	0.562000														35			16		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408933	82408933	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:82408933G>A	uc001dit.4	+	5	859	c.678G>A	c.(676-678)acG>acA	p.T226T	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.T226T|LPHN2_uc001div.3_Silent_p.T226T|LPHN2_uc009wcd.3_Silent_p.T226T	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	226	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGAAAGAACGAGGAATATTG	0.388000														48			40		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188002	152188002	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152188002T>G	uc001ezt.1	-	2	6179	c.6103A>C	c.(6103-6105)Agc>Cgc	p.S2035R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567000														601			29		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036066	57036066	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:57036066C>T	uc010zzp.1	-	4	1643	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	APCDD1L_uc002xze.1_Missense_Mutation_p.G429E	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	429						integral to membrane		p.D439N(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGGCCTTTGTCCGATGAAGAG	0.612000														108			28		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247434	164247434	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:164247434G>A	uc003iqm.2	-	1	738	c.273C>T	c.(271-273)atC>atT	p.I91I	NPY1R_uc021xtv.1_Silent_p.I91I|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	91					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGACACATGATGGCAACAA	0.408000														25			36		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748909	10748909	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10748909T>C	uc002mpf.3	+	19	1986	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	SLC44A2_uc002mpe.4_Missense_Mutation_p.L614P|SLC44A2_uc002mpg.1_Missense_Mutation_p.L336P|SLC44A2_uc002mph.3_Missense_Mutation_p.L165P|SLC44A2_uc002mpi.3_Missense_Mutation_p.L32P	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	616					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCAGGGATCCTGGCTTTCTTC	0.483000														93			9		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76982380	76982380	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76982380A>G	uc001oyf.3	-	4	517	c.266T>C	c.(265-267)tTc>tCc	p.F89S		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	89					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TTCTTTCCAGAATTTGCATAT	0.423000														74			11		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116288791	116288791	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:116288791C>T	uc003pwi.1	-	3	1169	c.722G>A	c.(721-723)gGa>gAa	p.G241E		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	241	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CTGACCAGATCCCAATCGCTT	0.448000														2			64		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26709213	26709213	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:26709213G>A	uc001rhg.3	-	35	5334	c.4917C>T	c.(4915-4917)ttC>ttT	p.F1639F		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1639					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCCCTCAGGGAACAGCAGTT	0.488000														71			18		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626825	33626825	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33626825A>G	uc021ywr.1	+	5	780	c.556A>G	c.(556-558)Aat>Gat	p.N186D		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	186	MIR 2.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGTGATCCTGAATCCTGTCAA	0.632000														151			4		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284395	27284395	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:27284395T>C	uc002hdp.2	-	11	2659	c.2465A>G	c.(2464-2466)aAg>aGg	p.K822R	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.K822R|SEZ6_uc002hdq.1_Missense_Mutation_p.K697R	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	822	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTCACTCCACTTGGGGCTGCC	0.567000														194			68		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329730	152329730	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152329730G>A	uc001ezw.4	-	2	605	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	178	Ser-rich.						calcium ion binding|structural molecule activity	p.Q178*(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATCTTTTCTGAGATCCCTCT	0.478000														99			88		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958783	111958783	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:111958783G>A	uc003dyu.3	-	11	1572	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Silent_p.T402T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	450					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTGCAGACTTGGTTAGCTCTT	0.363000														2			20		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64219883	64219883	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:64219883C>T	uc002jfn.4	-	3	407	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	116	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CAGCGCCATTCAGATAAAACC	0.433000														3			57		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338852	151338852	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151338852G>A	uc010pcy.2	-	6	998	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	SELENBP1_uc001exx.3_Missense_Mutation_p.L248F|SELENBP1_uc010pcz.2_Missense_Mutation_p.L186F|SELENBP1_uc001eya.3_Missense_Mutation_p.L184F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	248					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.V290V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGGAATAAGCCCATCTTTT	0.577000														96			88		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51778589	51778589	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:51778589A>G	uc001csl.3	-	2	281	c.176T>C	c.(175-177)cTg>cCg	p.L59P	TTC39A_uc001csk.3_Missense_Mutation_p.L59P|TTC39A_uc010ond.2_Missense_Mutation_p.L31P|TTC39A_uc010one.2_Missense_Mutation_p.L58P|TTC39A_uc010onf.2_Missense_Mutation_p.L62P|TTC39A_uc001csn.3_Missense_Mutation_p.L58P|TTC39A_uc001cso.1_Missense_Mutation_p.L55P|TTC39A_uc009vyy.1_Missense_Mutation_p.L31P	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	59							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGCATATGTCAGTGAGTGGTA	0.537000														273			44		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154190886	154190886	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154190886C>T	uc003lvo.3	+	16	2716	c.2692C>T	c.(2692-2694)Cag>Tag	p.Q898*	LARP1_uc021ygh.1_Nonsense_Mutation_p.Q770*	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	975							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAGGATTTTCAGGAGGAAAC	0.483000														33			22		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6530174	6530174	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6530174T>G	uc001mdw.4	+	4	1549	c.985T>G	c.(985-987)Ttt>Gtt	p.F329V	DNHD1_uc001mdp.3_Missense_Mutation_p.F329V|DNHD1_uc001mdq.3_Missense_Mutation_p.F18V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	329					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTCTCTCCCTTTGGGATCTT	0.527000														97			23		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75301396	75301396	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75301396A>G	uc001juo.3	-	5	690	c.673T>C	c.(673-675)Tgt>Cgt	p.C225R	USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.C225R|USP54_uc010qkl.1_Missense_Mutation_p.C225R|USP54_uc001juq.1_Missense_Mutation_p.C18R	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	225					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCACTGGACAGTTCCGCAGA	0.498000														17			4		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770198	87770198	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87770198A>T	uc003hqd.2	-	0	219	c.71T>A	c.(70-72)cTg>cAg	p.L24Q		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	24						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ATGCACCTCCAGTCCCACTGG	0.537000														57			5		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127799	152127799	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152127799T>G	uc001ezs.1	-	2	1841	c.1776A>C	c.(1774-1776)caA>caC	p.Q592H		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	592	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TATTTTGCCCTTGTATTTCCC	0.458000														299			18		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68968077	68968077	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:68968077G>A	uc003xxv.1	+	9	1133	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	PREX2_uc003xxu.1_Missense_Mutation_p.G369E|PREX2_uc011lez.1_Missense_Mutation_p.G304E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	369					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTAAAATTAGGAATGGAGCAA	0.353000														20			24		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219906	11219906	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:11219906T>A	uc021tcy.1	+	21	2774	c.2544T>A	c.(2542-2544)acT>acA	p.T848T	CLEC16A_uc002dan.4_Silent_p.T830T|CLEC16A_uc002dao.3_Silent_p.T846T|CLEC16A_uc002dap.3_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	848								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCACCTCCACTCAGCACCTGC	0.622000														264			12		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060142	57060143	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57060142_57060143GG>AA	uc021tiu.1	+	4	1414_1415	c.1287_1288GG>AA	c.(1285-1290)gtggcc>gtAAcc	p.A430T	NLRC5_uc021tit.1_Missense_Mutation_p.A430T|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A235T|NLRC5_uc021tiw.1_Missense_Mutation_p.A235T|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	430	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.V429M(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCAGTCTGTGGCCCTCCTGCC	0.644000														3			56		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957224	49957224	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49957224A>G	uc004dow.1	-	4	2264	c.2140T>C	c.(2140-2142)Tat>Cat	p.Y714H	AKAP4_uc004dou.1_Missense_Mutation_p.Y705H|AKAP4_uc004dov.1_Missense_Mutation_p.Y331H|AKAP4_uc010njp.1_Missense_Mutation_p.Y536H	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	714					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.K713*(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCGTTGCTATACTTAGCCATG	0.468000														24			15		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646030	51646030	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51646030A>C	uc002pvv.1	+	0	473	c.404A>C	c.(403-405)aAa>aCa	p.K135T	SIGLEC7_uc002pvw.1_Missense_Mutation_p.K135T|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.K135T	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	135					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGGAATTATAAATATGACCAG	0.478000														74			4		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506421	11506421	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11506421C>T	uc001qzw.1	-	3	650	c.613G>A	c.(613-615)Gga>Aga	p.G205R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	267	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.612000														301			18		0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54961500	54961500	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54961500A>C	uc002xxe.1	-	3	389	c.132T>G	c.(130-132)gcT>gcG	p.A44A	AURKA_uc002xxf.1_Silent_p.A44A|AURKA_uc002xxg.1_Silent_p.A44A|AURKA_uc002xxh.1_Silent_p.A44A|AURKA_uc002xxi.1_Silent_p.A44A|AURKA_uc002xxj.1_Silent_p.A44A|AURKA_uc010zzd.1_Intron|AURKA_uc002xxd.1_Silent_p.A44A	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			AGACCCGCTGAGCCTGGCCAC	0.483000														101			5		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987572	50987572	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50987572A>G	uc003bmi.3	+	0	1111	c.977A>G	c.(976-978)aAc>aGc	p.N326S		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	326								p.R325Q(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGTGTTCAACCCCCGGGAG	0.711000														99			56		0	0	1	0	0
PRSS41	360226	broad.mit.edu	37	16	2854974	2854974	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2854974C>T	uc010uwi.2	+	4	798	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001135086	NP_001128558	Q7RTY9	PRS41_HUMAN	Homo sapiens protease, serine, 41 (PRSS41), mRNA.	266	Peptidase S1.				proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										AGGTTGGAATCGTGAGCTGGG	0.582000														0			4		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196971746	196971746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196971746G>A	uc001gts.4	+	7	1410	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	428	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAAGCAAAAGAAATTGTATG	0.348000														28			12		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432870	104432870	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104432870C>T	uc004bbp.2	-	2	2425	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W608*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	608					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCCCATTTTTCCATGCTCCAT	0.483000														15			19		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124196127	124196127	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124196127A>C	uc003ehg.3	+	26	4258	c.4131A>C	c.(4129-4131)aaA>aaC	p.K1377N	KALRN_uc010hrv.1_Missense_Mutation_p.K1368N|KALRN_uc003ehf.1_Missense_Mutation_p.K1377N|KALRN_uc011bjy.1_Missense_Mutation_p.K1368N|KALRN_uc003ehh.1_Missense_Mutation_p.K723N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1377	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTACTGTAAAAACAAGCCTG	0.413000														76			5		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117023162	117023162	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117023162G>A	uc003vjb.2	-	6	753	c.690C>T	c.(688-690)atC>atT	p.I230I	ASZ1_uc011kno.1_Silent_p.I230I|ASZ1_uc011knp.1_Silent_p.I22I	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	230					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GTAAGTTGAAGATCTGAAAAA	0.279000														12			5		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111749956	111749956	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:111749956C>T	uc001tsa.2	+	15	2107	c.1953C>T	c.(1951-1953)atC>atT	p.I651I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	651						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGACGCCATCAAGAGCATTC	0.622000														0			10		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32860396	32860396	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:32860396T>C	uc003cff.3	+	0	887	c.824T>C	c.(823-825)cTc>cCc	p.L275P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	275					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCGAGCGCCTCGGCTTCTGC	0.692000														94			4		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187120183	187120183	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187120183A>C	uc003iyw.4	+	5	1051	c.747A>C	c.(745-747)aaA>aaC	p.K249N		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	249					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TTATGTTTAAAGAAGGATGGG	0.353000														53			10		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3723980	3723980	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3723980A>C	uc001lyh.3	-	22	3646	c.3225T>G	c.(3223-3225)acT>acG	p.T1075T	NUP98_uc001lyi.3_Silent_p.T1075T|NUP98_uc001lyg.3_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1092					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGAACACAGAAGTCAGGGGTG	0.512000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									51			14		0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4837773	4837773	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:4837773A>C	uc002wlg.1	-	16	2173	c.1798T>G	c.(1798-1800)Tcg>Gcg	p.S600A	SLC23A2_uc010zqr.1_Missense_Mutation_p.S485A|SLC23A2_uc002wlh.1_Missense_Mutation_p.S600A	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	600					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAATTGTACGACTCCATGCCG	0.463000														64			6		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140144	158140144	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:158140144C>T	uc010jip.3	-	12	1505	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	EBF1_uc011ddw.2_Silent_p.L269L|EBF1_uc011ddx.2_Silent_p.L402L|EBF1_uc003lxl.4_Silent_p.L370L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	401					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTCTCTTCAGAATGATTT	0.542000			T	HMGA2	lipoma									10			7		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				1			53		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894335	151894335	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:151894335A>G	uc003qol.3	+	5	890	c.801A>G	c.(799-801)aaA>aaG	p.K267K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	267																	TAGAAGCAAAAGAAGCTCTTG	0.448000														18			11		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190656	27190656	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:27190656T>G	uc011lno.2	+	8	1770	c.1328T>G	c.(1327-1329)gTt>gGt	p.V443G	TEK_uc003zqi.4_Missense_Mutation_p.V486G|TEK_uc011lnp.2_Missense_Mutation_p.V339G|TEK_uc003zqj.1_Missense_Mutation_p.V420G	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	486					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TACAAACCCGTTAATCACTAT	0.433000														38			61		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806111	26806111	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:26806111T>G	uc001zbb.3	-	8	1319	c.1216A>C	c.(1216-1218)Aag>Cag	p.K406Q	GABRB3_uc021sgg.1_Missense_Mutation_p.K279Q|GABRB3_uc021sgh.1_Missense_Mutation_p.K265Q|GABRB3_uc001zaz.3_Missense_Mutation_p.K350Q|GABRB3_uc001zba.3_Missense_Mutation_p.K350Q	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	350					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGGTCATTCTTTGCCTTGGCT	0.512000														47			38		0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22360657	22360657	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:22360657T>G	uc002dkn.3	-	3	757	c.449A>C	c.(448-450)gAc>gCc	p.D150A		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	150						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTTCTCCTGGTCACACTTTCC	0.542000														115			9		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699835	151699835	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151699835T>G	uc003wkp.3	+	5	965	c.695T>G	c.(694-696)gTg>gGg	p.V232G	GALNTL5_uc010lqf.3_Missense_Mutation_p.V121G|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	232	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.V232V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CACTGTGAGGTGAACAGAGTA	0.512000														74			4		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32624387	32624387	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:32624387C>A	uc001mtv.3	-	17	3254	c.3210G>T	c.(3208-3210)gaG>gaT	p.E1070D		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	1070										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCCAACGTCTCTTCTGCTT	0.294000														4			7		1.12685e-05	1.12884e-05	1	1	0
LOXL3	84695	broad.mit.edu	37	2	74761740	74761740	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74761740A>G	uc002smp.1	-	9	1813	c.1741T>C	c.(1741-1743)Tcc>Ccc	p.S581P	LOXL3_uc002smo.1_Missense_Mutation_p.S220P|LOXL3_uc010ffm.1_Missense_Mutation_p.S525P|LOXL3_uc002smq.1_Missense_Mutation_p.S436P|LOXL3_uc010ffn.1_Missense_Mutation_p.S436P	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	581	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						ATCTGGGAGGAGAATCGGAGC	0.632000														38			4		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5966599	5966599	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5966599C>T	uc002wmk.3	+	15	2482	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	MCM8_uc002wmi.3_Missense_Mutation_p.P662L|MCM8_uc002wmj.3_Missense_Mutation_p.P646L|MCM8_uc002wml.3_Missense_Mutation_p.P662L|MCM8_uc010gbp.3_Missense_Mutation_p.P615L|MCM8_uc002wmm.3_Missense_Mutation_p.P200L	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	662					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.R702H(1)|p.P646L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATCCCATTCCCCACCAGCTA	0.408000														36			35		0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643866	16643867	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16643866_16643867GG>AA	uc002nei.1	-	3	551_552	c.477_478CC>TT	c.(475-480)aacctc>aaTTtc	p.L160F	MED26_uc002nee.2_Intron|CHERP_uc002nej.3_Missense_Mutation_p.L128F	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	160	CID.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCTGCAGGAGGTTGTCAAACT	0.629000														3			3		0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220101634	220101634	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220101634G>A	uc001hlw.3	-	0	360	c.149C>T	c.(148-150)tCg>tTg	p.S50L	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.3_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	50					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CACGCACAGCGAGATCAGGTC	0.701000														13			5		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119341252	119341252	+	Missense_Mutation	SNP	G	A	A	rs141308759		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:119341252G>A	uc003pyj.3	-	3	1571	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	FAM184A_uc003pyk.4_Missense_Mutation_p.S288L|FAM184A_uc003pyl.4_Missense_Mutation_p.S288L	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	408								p.S408L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTGACTCTCGATTTTTCTGA	0.373000														3			23		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226491662	226491662	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:226491662C>T	uc002voe.2	+	4	1823	c.1648C>T	c.(1648-1650)Cac>Tac	p.H550Y	NYAP2_uc010fxa.1_Missense_Mutation_p.P79L|NYAP2_uc002vof.1_Missense_Mutation_p.H320Y	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	550																	AGTCCGAAGCCACAGCACGGA	0.433000														5			5		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681040	137681040	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137681040C>T	uc003lcv.3	+	3	1133	c.663C>T	c.(661-663)tcC>tcT	p.S221S	FAM53C_uc003lcw.3_Silent_p.S221S|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	221										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATGCTGAGTCCTTGTCACCTT	0.652000														90			67		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441395	58441395	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:58441395A>C	uc002yaz.3	-	39	4412	c.4273T>G	c.(4273-4275)Ttt>Gtt	p.F1425V		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1425					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTTTTCAAAATTCTCCAGC	0.239000														30			5		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947152	165947152	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:165947152C>T	uc002ucx.3	-	27	6003	c.5511G>A	c.(5509-5511)atG>atA	p.M1837I	SCN3A_uc010zcy.2_Missense_Mutation_p.M320I|SCN3A_uc002ucy.3_Missense_Mutation_p.M1788I|SCN3A_uc002ucz.3_Missense_Mutation_p.M1788I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1837						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGGGCAGATCCATGGCAATAA	0.468000														32			59		0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149922826	149922826	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:149922826T>C	uc003qmr.2	-	5	837	c.792A>G	c.(790-792)acA>acG	p.T264T	KATNA1_uc003qms.3_Silent_p.T264T|KATNA1_uc003qmt.3_Silent_p.T188T|KATNA1_uc011eed.1_Silent_p.T188T	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	264					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TCTTGCATTCTGTAGCTACTG	0.448000														20			16		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8788075	8788075	+	Silent	SNP	G	A	A	rs148443913		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8788075G>A	uc002glt.3	-	14	2221	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	PIK3R5_uc010vuz.2_Silent_p.I718I|PIK3R5_uc021tqc.1_Silent_p.I332I|PIK3R5_uc010cob.2_Silent_p.I332I|PIK3R5_uc010coa.2_Silent_p.I332I|PIK3R5_uc002glu.4_Silent_p.I332I	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	718	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTCGCCATCGATGCCCAGCC	0.602000														3			46		0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23713939	23713939	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:23713939C>T	uc002kvq.3	+	0	124	c.10C>T	c.(10-12)Cga>Tga	p.R4*	PSMA8_uc002kvo.3_Nonsense_Mutation_p.R4*|PSMA8_uc002kvp.3_Nonsense_Mutation_p.R4*|PSMA8_uc002kvr.3_5'UTR	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	4					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GATGGCGTCTCGATATGACAG	0.602000														58			44		0	0	1	0	0
CALM1	801	broad.mit.edu	37	14	90870297	90870297	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:90870297C>T	uc001xyl.2	+	3	518	c.270C>T	c.(268-270)ttC>ttT	p.F90F	CALM1_uc010atq.2_Silent_p.F91F|CALM1_uc001xym.2_Silent_p.F54F	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	90	EF-hand 3.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	N-terminal myristoylation domain binding|calcium ion binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GTGAGGCATTCCGAGTCTTTG	0.378000														39			27		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297722	10297722	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10297722G>A	uc002gmm.2	-	34	5105	c.5010C>T	c.(5008-5010)ctC>ctT	p.L1670L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1670					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGTTCCTTGAGGTCCTCCT	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					30			32		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49866548	49866548	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49866548G>A	uc003cxs.1	-	14	1504	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	TRAIP_uc010hla.1_Silent_p.F367F	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	466	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACGACCACAGGAAGGTGTCCA	0.552000														78			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000458	9000458	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9000458C>T	uc002mkp.3	-	53	40730	c.40526G>A	c.(40525-40527)aGa>aAa	p.R13509K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R326K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13511	SEA 10.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAAGGACTCTCTCCGTGGT	0.498000														60			43		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44109537	44109537	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:44109537G>A	uc002ikc.3	-	13	3437	c.2966C>T	c.(2965-2967)cCt>cTt	p.P989L	KANSL1_uc002ikd.3_Missense_Mutation_p.P989L|KANSL1_uc010dav.3_Missense_Mutation_p.P988L|KANSL1_uc010wkb.2_Missense_Mutation_p.P320L|KANSL1_uc010wkc.2_Missense_Mutation_p.P257L	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	989						MLL1 complex	protein binding										GGGGCTCCTAGGGGACTGACC	0.622000														59			41		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064800	42064800	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:42064800G>A	uc002yyq.1	-	2	896	c.444C>T	c.(442-444)ccC>ccT	p.P148P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	148	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCACCGAGGAGGGGATAATGC	0.537000														63			16		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571186	71571186	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:71571186A>T	uc003twb.4	-	3	729	c.338T>A	c.(337-339)aTg>aAg	p.M113K	CALN1_uc003twa.4_Missense_Mutation_p.M71K|CALN1_uc003twc.4_Missense_Mutation_p.M71K	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	71						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCGCTTGGCATGTACCCCAA	0.587000														38			11		0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99995512	99995512	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99995512G>A	uc003uuo.1	+	3	896	c.684G>A	c.(682-684)cgG>cgA	p.R228R	PILRA_uc011kjo.2_Silent_p.R155R|PILRA_uc003uup.1_Silent_p.R155R|PILRA_uc003uuq.1_Intron	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	228					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCAGCAGCGGACTAAAGCCA	0.632000														55			31		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305022	27305022	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27305022C>T	uc002rii.4	+	3	1082	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	EMILIN1_uc010eyq.2_Silent_p.L195L|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	195					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCAAGGCCTGCGGGGCGT	0.662000														36			18		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156616705	156616705	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156616705C>T	uc001fpp.3	+	2	540	c.204C>T	c.(202-204)cgC>cgT	p.R68R	BCAN_uc001fpo.3_Silent_p.R68R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	68	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCGAGCCGCCGGGCTGTGC	0.731000														22			15		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579458	58579459	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58579458_58579459CC>AT	uc002qrg.3	+	3	1681_1682	c.1678_1679CC>AT	c.(1678-1680)ccc>ATc	p.P560I	ZNF135_uc002qre.3_Missense_Mutation_p.P536I|ZNF135_uc002qrf.3_Missense_Mutation_p.P494I|ZNF135_uc010yhq.2_Missense_Mutation_p.P548I|ZNF135_uc010yhr.2_Missense_Mutation_p.P357I|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	548					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P560H(1)|p.P536H(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCTTGCTCCCCTCATTCAG	0.540000														80			38		0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639302	96639302	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:96639302T>G	uc022ahu.1	+	2	825	c.825T>G	c.(823-825)taT>taG	p.Y275*	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	157					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGCCTGGCTATTCTCACTGGT	0.587000														16			7		0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510347	140510347	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140510347G>A	uc004cnz.3	-	2	889	c.305C>T	c.(304-306)cCc>cTc	p.P102L	ARRDC1_uc004cnp.2_3'UTR|ARRDC1_uc004cnx.2_3'UTR	NM_032937	NP_116326	Q9H2J1	CI037_HUMAN	Homo sapiens chromosome 9 open reading frame 37 (C9orf37), mRNA.	102										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TTTCTCAAAGGGGCATCCTGC	0.622000														59			24		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887546	26887546	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26887546A>T	uc001bmr.1	+	15	1515	c.1352A>T	c.(1351-1353)aAg>aTg	p.K451M	RPS6KA1_uc010ofe.1_Missense_Mutation_p.K359M|RPS6KA1_uc010off.1_Missense_Mutation_p.K435M|RPS6KA1_uc001bms.1_Missense_Mutation_p.K460M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.K294M	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	451	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCATTGATAAGAGCAAGCGG	0.547000														78			10		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169232189	169232189	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:169232189C>T	uc003irp.3	-	2	326	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	12							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGGGACATTTCCTGTGAAAAT	0.308000														4			3		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822971	54822971	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54822971G>A	uc002qfe.3	-	4	545	c.425C>T	c.(424-426)cCc>cTc	p.P142L	LILRA5_uc002qff.3_Missense_Mutation_p.P130L|LILRA5_uc010yev.2_Missense_Mutation_p.P142L|LILRA5_uc010yew.2_Missense_Mutation_p.P130L|LILRA5_uc002qfg.1_Missense_Mutation_p.P142L|LILRA5_uc002qfh.1_Missense_Mutation_p.P130L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	142	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGAGGGTGGGTTTGTTGTA	0.582000														123			52		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040660	54040660	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:54040660C>T	uc001jjm.3	+	12	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PRKG1_uc001jjo.3_Silent_p.L505L|PRKG1_uc009xow.2_Silent_p.L208L|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAAAATCTCATCCTAGATC	0.388000														4			14		0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535108	27535108	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27535108G>A	uc002rjr.3	-	4	429	c.382C>T	c.(382-384)Cct>Tct	p.P128S	MPV17_uc002rjs.3_Missense_Mutation_p.P128S|MPV17_uc002rjt.3_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	128					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCATCAGGATAATCCTGG	0.483000														28			17		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481643	99481643	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:99481643G>A	uc001vnt.2	-	42	4872	c.4817C>T	c.(4816-4818)tCc>tTc	p.S1606F	DOCK9_uc001vnw.2_Missense_Mutation_p.S1605F|DOCK9_uc021rlw.1_Missense_Mutation_p.S1605F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.S1606F|DOCK9_uc001vnq.2_Missense_Mutation_p.S178F|DOCK9_uc001vnr.2_Missense_Mutation_p.S249F|DOCK9_uc010tin.1_Missense_Mutation_p.S249F|DOCK9_uc001vns.2_Missense_Mutation_p.S178F|DOCK9_uc010tio.1_Missense_Mutation_p.S298F|DOCK9_uc010tip.1_Missense_Mutation_p.S316F|DOCK9_uc001vnu.1_Missense_Mutation_p.S178F|DOCK9_uc010tiq.1_Missense_Mutation_p.S584F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1606	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K1605*(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGGCATAGGATTTGGCCAG	0.577000														12			8		0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81318690	81318690	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:81318690G>A	uc001kal.4	-	3	341	c.244C>T	c.(244-246)Cct>Tct	p.P82S	SFTPA2_uc001kan.4_Missense_Mutation_p.P82S	NM_001098668	NP_001092138	Q8IWL1	SFPA2_HUMAN	Homo sapiens surfactant protein A2 (SFTPA2), mRNA.	82	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CGCTCTCCAGGGACACCAGGG	0.627000									Pulmonary Fibrosis, Idiopathic					50			32		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016427	22016427	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22016427C>T	uc010tzk.1	-	0	452	c.290G>A	c.(289-291)aGa>aAa	p.R97K						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		ACCAGGAGCTCTTTTCACTTT	0.388000														64			16		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135692539G>A	uc003lbn.2	-	1	759	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_uc010jef.2_Silent_p.I170I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I179I|TRPC7_uc010jei.2_Silent_p.I179I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000														41			54		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405206	105405206	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105405206T>G	uc003yly.4	-	7	1378	c.1249A>C	c.(1249-1251)Aaa>Caa	p.K417Q	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	417					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGAGTTTTTGCTGAGATA	0.373000														71			4		0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074699	59074699	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:59074699C>T	uc002qto.3	-	5	1506	c.945G>A	c.(943-945)caG>caA	p.Q315Q	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Silent_p.Q315Q	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	315	Asp/Glu-rich (acidic).				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCGTGGGGTCCTGTTCACTCC	0.692000														19			9		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398364	10398364	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10398364T>C	uc002mnr.2	+	1	516	c.470T>C	c.(469-471)cTt>cCt	p.L157P	ICAM4_uc002mns.2_Missense_Mutation_p.F183L|ICAM4_uc002mnt.2_Missense_Mutation_p.F183L|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTGGAGCGCTTCACCGGCCT	0.622000														31			15		0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256638	7256638	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7256638T>G	uc002gge.4	+	0	1431	c.377T>G	c.(376-378)cTt>cGt	p.L126R	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	126					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGAGCCAACCTTTTCTGCACC	0.602000														118			26		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174723	231174723	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:231174723G>A	uc002vql.3	+	22	2258	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.D601N|SP140_uc002vqm.3_Missense_Mutation_p.D655N|SP140_uc010fxl.3_Missense_Mutation_p.D688N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	715					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTCCATGAGGACTGTCACAT	0.517000														58			27		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850792	216850792	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:216850792G>A	uc001hkw.2	-	1	271	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ESRRG_uc009xdp.1_Missense_Mutation_p.S10F|ESRRG_uc001hky.1_Missense_Mutation_p.S10F|ESRRG_uc001hkz.2_Missense_Mutation_p.S10F|ESRRG_uc010puc.2_Missense_Mutation_p.S10F|ESRRG_uc001hla.2_Missense_Mutation_p.S10F|ESRRG_uc001hlb.2_Missense_Mutation_p.S10F|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S10F|ESRRG_uc001hld.1_Missense_Mutation_p.S10F|ESRRG_uc001hkx.2_Missense_Mutation_p.S38F|ESRRG_uc009xdo.2_Missense_Mutation_p.S10F|ESRRG_uc001hle.2_Missense_Mutation_p.S10F|ESRRG_uc021piz.1_Missense_Mutation_p.S10F	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	33					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGAACAGCTGGAATCAATGTG	0.527000														36			14		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100543843	100543843	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100543843G>A	uc011cej.2	+	17	2617	c.2604G>A	c.(2602-2604)gaG>gaA	p.E868E	MTTP_uc003hvc.4_Silent_p.E841E	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	841					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.E867K(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGCAATTTGAGAAAAAGTACG	0.408000														48			21		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960991	26960991	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26960991A>G	uc002hbu.3	-	16	3287	c.3184T>C	c.(3184-3186)Ttg>Ctg	p.L1062L		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1062						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCAAGTGCAAGATCTGACGC	0.562000														75			20		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033984	52033984	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52033984G>A	uc002pwy.3	-	2	865	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SIGLEC6_uc002pwz.3_Silent_p.F219F|SIGLEC6_uc010ydb.2_Silent_p.F183F|SIGLEC6_uc010ydc.2_Silent_p.F219F|SIGLEC6_uc002pxa.3_Silent_p.F219F|SIGLEC6_uc010eoz.2_Silent_p.F208F|SIGLEC6_uc010epa.2_Silent_p.F208F|SIGLEC6_uc010epb.2_Silent_p.F172F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	219	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGGCTCCAGGGAACGTCACCT	0.667000														58			67		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289822	5289822	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5289822C>T	uc001mal.1	-	2	587	c.321G>A	c.(319-321)ctG>ctA	p.L107L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L107L	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	107					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACGTTACCCAGGAGCTGTT	0.453000														56			77		0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179227054	179227054	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179227054G>A	uc003mkr.3	-	6	1619	c.855C>T	c.(853-855)atC>atT	p.I285I	MGAT4B_uc003mkp.3_Silent_p.I125I|MGAT4B_uc003mkq.3_Silent_p.I125I|MGAT4B_uc003mks.3_Silent_p.I270I|MIR1229_uc021yjg.1_5'Flank	NM_054013	NP_463459	Q9UQ53	MGT4B_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA.	270					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTGGCCACGATGTCATCCT	0.617000														19			19		0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918415	66918415	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:66918415A>C	uc021tjw.1	+	0	228	c.228A>C	c.(226-228)caA>caC	p.Q76H	PDP2_uc002eqk.2_Missense_Mutation_p.Q76H	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	76					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTCACTTGCAACTCAGCCCTG	0.498000														41			22		0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581936	99581936	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:99581936A>C	uc004awp.1	-	5	650	c.369T>G	c.(367-369)aaT>aaG	p.N123K	ZNF782_uc011lup.1_5'UTR	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTATGTCTCGATTATGTGGTT	0.423000														30			5		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361872	9361872	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9361872C>T	uc002mlb.1	+	0	153	c.153C>T	c.(151-153)tcC>tcT	p.S51S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(2)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGTTCCTGTCCATGTACCTGG	0.572000														30			31		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11941997	11941997	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:11941997C>T	uc001mjs.3	+	9	1937	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	USP47_uc001mjq.1_Missense_Mutation_p.P412S|USP47_uc001mjr.3_Missense_Mutation_p.P324S	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	412					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACATTTCCCGAGGAACT	0.313000														28			23		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16486675	16486675	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:16486675G>A	uc002wpg.2	-	7	1019	c.860C>T	c.(859-861)tCt>tTt	p.S287F	KIF16B_uc010gch.2_Missense_Mutation_p.S287F|KIF16B_uc010gci.2_Missense_Mutation_p.S287F|KIF16B_uc010gcj.2_Missense_Mutation_p.S287F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	287	Kinesin-motor.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACCTAAGGCAGAAATGACGTT	0.507000														35			29		0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989226	22989226	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:22989226T>G	uc010gts.2	+	1	213	c.179T>G	c.(178-180)tTt>tGt	p.F60C	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.F60C	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	60					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GGCGGTAGCTTTGGCTCCAAG	0.592000														115			6		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112418637	112418637	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112418637G>A	uc003kql.4	-	10	2120	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	MCC_uc003kqj.4_Silent_p.F378F|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.F378F|MCC_uc010jcd.1_Silent_p.F340F	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	378					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGAGTGTTTGGAAAATCTCTT	0.463000														20			17		0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519767	33519767	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33519767A>C	uc002xbg.3	-	9	1084	c.1004T>G	c.(1003-1005)tTt>tGt	p.F335C	GSS_uc010zun.2_Missense_Mutation_p.F207C|GSS_uc010zuo.2_Missense_Mutation_p.F224C|GSS_uc010zup.2_Missense_Mutation_p.F266C|GSS_uc010gez.1_Missense_Mutation_p.F65C	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	335					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCCAGCAAAGGTGGCGCG	0.627000														62			12		0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909093	124909093	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:124909093C>T	uc001lhc.1	+	1	533	c.276C>T	c.(274-276)ccC>ccT	p.P92P		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	92					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P92P(2)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGGTACCCCCAAGGGCAGCG	0.642000														34			20		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411575	126411575	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126411575A>C	uc003ifj.4	+	16	13598	c.13598A>C	c.(13597-13599)aAg>aCg	p.K4533T	FAT4_uc011cgp.2_Missense_Mutation_p.K2774T|FAT4_uc003ifi.1_Missense_Mutation_p.K2010T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4533					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGGGGAAGAAGGCCAAAAAT	0.537000														26			11		0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179252196	179252196	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179252196G>A	uc003mkw.4	+	4	819	c.724G>A	c.(724-726)Gag>Aag	p.E242K	SQSTM1_uc011dgr.2_Missense_Mutation_p.E158K|SQSTM1_uc011dgs.2_Missense_Mutation_p.E158K|SQSTM1_uc003mkx.3_Missense_Mutation_p.E158K	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	242					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACGTTGGGGAGAGTGTGGC	0.468000														24			18		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101711405	101711405	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101711405C>T	uc001tia.1	+	21	2858	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	901					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGATGAATCCTCACAGAAG	0.502000														1			11		0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33951032	33951032	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:33951032G>A	uc002ypw.4	-	3	586	c.470C>T	c.(469-471)tCg>tTg	p.S157L		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	221						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						GTTAGATGACGATCTTTGTCC	0.458000														81			65		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71002483	71002483	+	Missense_Mutation	SNP	C	T	T	rs148201083		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:71002483C>T	uc004agr.3	+	3	905	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	226					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACTGAAGATTCGCATTGACGC	0.468000														34			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801153	185801153	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185801153G>A	uc002uph.3	+	3	1624	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	344						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTTATTAATGAAGACATACC	0.348000														12			10		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228469827	228469827	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:228469827G>A	uc009xez.1	+	30	8435	c.8391G>A	c.(8389-8391)cgG>cgA	p.R2797R	OBSCN_uc001hsn.3_Silent_p.R2797R|OBSCN_uc001hsp.1_Silent_p.R496R|OBSCN_uc001hsq.1_Silent_p.R53R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2797	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTGGTCCGGGAGGCTGCAC	0.652000														23			17		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101514367	101514367	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101514367C>T	uc010svm.1	+	25	3212	c.2640C>T	c.(2638-2640)gtC>gtT	p.V880V	ANO4_uc001thw.2_Silent_p.V845V|ANO4_uc001thx.2_Silent_p.V880V|ANO4_uc001thy.2_Silent_p.V400V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	880						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGGCATGTCCTAGCTGCTC	0.413000										HNSCC(74;0.22)				2			20		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30096455	30096455	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:30096455A>G	uc001uso.3	-	8	1576	c.1189_splice	c.e8+1	p.A397_splice		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	397					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTACTCACCAGCAACGGCAC	0.443000														208			16		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099781	168099781	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168099781G>A	uc002udx.3	+	8	1968	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D452N|XIRP2_uc010fpq.3_Missense_Mutation_p.D405N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	452					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAACCCATCGACACACTTGG	0.448000														19			24		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152484119	152484119	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152484119T>C	uc021vrb.1	-	63	9361	c.9332A>G	c.(9331-9333)aAg>aGg	p.K3111R	NEB_uc002txu.3_Missense_Mutation_p.K3354R|NEB_uc021vrc.1_Missense_Mutation_p.K3354R|NEB_uc010fnx.3_Missense_Mutation_p.K3099R|NEB_uc021vrd.1_Missense_Mutation_p.K3111R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3111					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGTAGTTCTTGTAGTCCAC	0.527000														206			78		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624163	624163	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:624163C>T	uc002cho.3	+	1	227	c.89C>T	c.(88-90)gCc>gTc	p.A30V	PIGQ_uc010bqw.3_Missense_Mutation_p.A30V|PIGQ_uc002chm.3_Missense_Mutation_p.A30V|PIGQ_uc002chn.3_Missense_Mutation_p.A30V|PIGQ_uc010uui.2_Missense_Mutation_p.A44V	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	30					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGAGCAGCGCCGTGGTCCTG	0.697000														8			29		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803008	144803008	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144803008G>A	uc003yzj.3	+	8	956	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	305					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CCTACGTGCAGAGGTGGGGGT	0.677000														20			14		0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120741623	120741623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:120741623C>T	uc001tyc.3	+	1	318	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	87	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding	p.R87S(2)|p.R87H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCACTGACCGCAGGCCCAT	0.567000														0			26		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155582	22155582	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22155582C>T	uc021urr.1	-	3	2403	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.373000														28			16		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20189750	20189750	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:20189750C>T	uc003cbq.3	+	15	2618	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	724					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGCCCAGAGACCCTGACCAGC	0.428000														22			17		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815280	242815280	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242815280G>A	uc010fzu.1	+	1	1596	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	525						integral to membrane											CCGCCGGGAGGAAGACGAGCG	0.652000														12			93		0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100840622	100840622	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100840622T>C	uc004ayc.3	+	3	728	c.596T>C	c.(595-597)gTc>gCc	p.V199A	TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Missense_Mutation_p.V47A	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	199					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AACCTGCGGGTCATCTCGGTG	0.507000														69			9		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378745	138378745	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:138378745A>G	uc022bpi.1	+	0	2389	c.2389A>G	c.(2389-2391)Agg>Ggg	p.R797G	PPP1R26_uc004cfr.1_Missense_Mutation_p.R797G	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	797						nucleolus	protein binding										CTTCCGGGTGAGGAGACCCGC	0.682000														39			12		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52325713	52325713	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:52325713G>A	uc003xqu.4	-	14	2002	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	634					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCTTACTGTGAAAACAAATG	0.353000														18			24		0	0	1	0	0
KIAA0494	9813	broad.mit.edu	37	1	47131031	47131031	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47131031T>C	uc010omh.1	-	9	2103	c.1126A>G	c.(1126-1128)Acc>Gcc	p.T376A	ATPAF1_uc009vyk.3_5'UTR|ATPAF1_uc010omg.2_Missense_Mutation_p.D3G|ATPAF1_uc001cqh.3_Missense_Mutation_p.D91G|ATPAF1_uc001cqi.3_Missense_Mutation_p.D91G	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	440							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					AGCAGCTGGGTCTGACCTGAT	0.463000														46			5		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60856923	60856923	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60856923T>G	uc002yck.1	+	8	1062	c.860T>G	c.(859-861)aTt>aGt	p.I287S	OSBPL2_uc002ycl.1_Missense_Mutation_p.I275S|OSBPL2_uc011aah.1_Missense_Mutation_p.I195S|OSBPL2_uc002ycm.1_Missense_Mutation_p.I99S	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	287					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAAGGACACATTCAAGACAAA	0.478000														49			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592872	179592872	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179592872C>T	uc021vsy.1	-	63	16172	c.15947G>A	c.(15946-15948)gGa>gAa	p.G5316E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1977E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6243							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)			TGCATCATCTCCTGCTACATT	0.383000														10			11		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653727	3653727	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3653727G>A	uc002fwo.4	-	15	2042	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	648					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCAGCCATGGACATGCCGAA	0.622000														59			24		0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72348220	72348220	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:72348220G>A	uc003kcl.3	+	12	1175	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	FCHO2_uc011csl.2_Silent_p.K320K|FCHO2_uc010izb.3_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	353										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AAGAACCAAAGAAGTATCGGA	0.333000														7			4		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162738949	162738949	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:162738949G>A	uc002ubx.4	+	9	1373	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	SLC4A10_uc010fpa.1_Missense_Mutation_p.D409N|SLC4A10_uc010zcr.1_Intron|SLC4A10_uc010zcs.2_Missense_Mutation_p.D378N|SLC4A10_uc002uby.4_Missense_Mutation_p.D367N	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	397					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.L397L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTAATGACAGATGAGGTATT	0.383000														6			4		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123257651	123257651	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123257651G>A	uc003vku.1	+	6	603	c.311G>A	c.(310-312)tGg>tAg	p.W104*	ASB15_uc003vkv.1_Nonsense_Mutation_p.W104*|ASB15_uc003vkw.1_Nonsense_Mutation_p.W104*	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	104					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAGACACTCTGGGAATTCAAG	0.383000														84			25		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703824	187703824	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:187703824G>A	uc002upu.1	-	3	396	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	119					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCCTGGTTGGGGAGTTTGAAC	0.393000														94			41		0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80336252	80336252	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:80336252T>C	uc004akw.3	-	6	1135	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	GNAQ_uc011lso.2_Missense_Mutation_p.Y154C|GNAQ_uc004akv.2_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	356					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GACCAGATTGTACTCCTTCAG	0.493000			Mis		uveal melanoma									12			4		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183088604	183088604	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:183088604G>A	uc002uos.3	-	7	895	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	PDE1A_uc010zfp.1_Missense_Mutation_p.H167Y|PDE1A_uc002uoq.1_Missense_Mutation_p.H271Y|PDE1A_uc010zfq.1_Missense_Mutation_p.H271Y|PDE1A_uc002uor.3_Missense_Mutation_p.H255Y|PDE1A_uc002uou.3_Missense_Mutation_p.H237Y	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	271	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTCTGAATGTGAAAGTTGTTT	0.308000														14			9		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5269664	5269664	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5269664G>A	uc001mai.1	-	2	806	c.369C>T	c.(367-369)ttC>ttT	p.F123F	HBG1_uc001mah.1_Silent_p.F123F	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	123					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGGGTGAATTCTTTGC	0.512000														24			25		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583244	24583244	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24583244T>G	uc002dmh.3	+	17	5897	c.4857T>G	c.(4855-4857)agT>agG	p.S1619R	RBBP6_uc002dmi.3_Missense_Mutation_p.S1585R|RBBP6_uc010bxr.3_Missense_Mutation_p.S779R|RBBP6_uc002dmk.3_Missense_Mutation_p.S1452R|DQ573285_uc021tfm.1_5'Flank	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1619					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCCAGTTAAGTCATTCCTCTA	0.373000														60			5		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101926380	101926380	+	Nonstop_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:101926380T>C	uc003uyt.3	+	22	2162	c.2035T>C	c.(2035-2037)Tga>Cga	p.*679R	CUX1_uc003uyw.3_Nonstop_Mutation_p.*633R|CUX1_uc003uyv.3_Nonstop_Mutation_p.*663R|CUX1_uc003uyu.3_Nonstop_Mutation_p.*677R|CUX1_uc011kkn.2_Nonstop_Mutation_p.*640R|SH2B2_uc011kko.2_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTTGTGGCAGTGATACCCCGG	0.617000														29			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833602	61833602	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61833602A>T	uc001jky.3	-	36	7375	c.7037T>A	c.(7036-7038)aTt>aAt	p.I2346N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2346					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTCTAATAATGACTTCAGT	0.393000														44			18		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282315	125282315	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125282315G>A	uc011lyw.2	+	0	896	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GACATAAAGGGAGCCCTGGAG	0.438000														22			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023597	62023597	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:62023597G>A	uc001jky.3	-	5	1033	c.695C>T	c.(694-696)tCa>tTa	p.S232L	ANK3_uc010qih.2_Missense_Mutation_p.S215L|ANK3_uc001jkz.4_Missense_Mutation_p.S226L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	232					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTCACCTTTGATTCCACATC	0.557000														14			21		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956169	55956169	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:55956169A>C	uc003has.3	-	22	3448	c.3146T>G	c.(3145-3147)tTg>tGg	p.L1049W	KDR_uc003hat.1_Missense_Mutation_p.L1049W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1049	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCCGGGCCAAGCCAAAGTC	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				28			34		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4024697	4024697	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4024697G>A	uc002cvx.3	-	9	3382	c.2843C>T	c.(2842-2844)tCg>tTg	p.S948L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	948					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTCAAGGGGCGAAGTTAATAC	0.378000														22			16		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884894	15884894	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15884894C>T	uc002yju.1	-	4	362	c.280_splice	c.e4-1	p.D94_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.D162_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	94					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTCCTCATCCTTCAGAAAA	0.413000														73			23		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948906	38948906	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38948906G>A	uc002oit.3	+	17	2271	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	RYR1_uc002oiu.3_Missense_Mutation_p.G714D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	714	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TATTCCTACGGCTTTGATGGA	0.637000														98			81		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440145	40440145	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40440145C>T	uc003gvc.2	-	3	1476	c.766G>A	c.(766-768)Gag>Aag	p.E256K	RBM47_uc003gvd.2_Missense_Mutation_p.E256K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.E218K|RBM47_uc003gvg.1_Missense_Mutation_p.E256K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	256	RRM 3.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCGGTGGTCTCGATCATGAGG	0.607000														33			42		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2291763	2291763	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:2291763G>A	uc002wfx.4	+	3	625	c.528G>A	c.(526-528)tgG>tgA	p.W176*		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	176					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGATTGGCTGGAACTTTGGAC	0.493000														73			50		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167551869	167551869	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:167551869C>T	uc010jjd.3	+	10	2023	c.2023C>T	c.(2023-2025)Ccc>Tcc	p.P675S	ODZ2_uc003lzr.4_Missense_Mutation_p.P443S|ODZ2_uc003lzt.4_Missense_Mutation_p.P39S|ODZ2_uc010jje.3_5'UTR	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTGCTTGGATCCCACCTGCTC	0.502000														3			3		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21009216	21009216	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21009216A>C	uc001bdr.4	-	10	2511	c.2393T>G	c.(2392-2394)cTt>cGt	p.L798R	KIF17_uc001bdp.4_Missense_Mutation_p.L76R|KIF17_uc009vpx.3_Missense_Mutation_p.L168R|KIF17_uc001bds.4_Missense_Mutation_p.L798R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	798					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTAGACGTTAAGCAGCACCCA	0.627000														77			18		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90741857	90741857	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:90741857G>A	uc003uky.2	+	13	1377	c.1155_splice	c.e13-1	p.K385_splice	CDK14_uc003ukz.1_Splice_Site_p.K367_splice|CDK14_uc010les.1_Splice_Site_p.K339_splice|CDK14_uc011khl.1_Splice_Site_p.K256_splice	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	385	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.K367N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATGTTTTTAGGCTCAGCTATG	0.428000														85			95		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196782	72196782	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:72196782T>A	uc001xms.3	+	17	5049	c.4688T>A	c.(4687-4689)cTc>cAc	p.L1563H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.L1542H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.L1542H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.L1563H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.L1017H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1563					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCACGCACTCTCCTCTCCT	0.527000														87			18		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250669	43250669	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43250669G>A	uc003ouq.1	+	13	2470	c.2191G>A	c.(2191-2193)Ggg>Agg	p.G731R	TTBK1_uc021yzs.1_Missense_Mutation_p.G19R	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	731						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCAGGCTAATGGGAaggagga	0.587000														22			26		0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44525647	44525647	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44525647A>C	uc002xqh.3	+	11	1560	c.1186A>C	c.(1186-1188)Aac>Cac	p.N396H	CTSA_uc002xqj.4_Missense_Mutation_p.N378H|CTSA_uc010zxi.2_Missense_Mutation_p.N379H|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	378					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCGAAGCATGAACTCCCAGTA	0.567000														114			29		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662816	49662817	+	Splice_Site	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49662816_49662817GG>AA	uc003cxe.4	+	2	747	c.633_splice	c.e2+1	p.Q211_splice		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	211					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)		ATCTCACCCAGGTAACCACTTC	0.559000														31			14		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360709	16360709	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:16360709G>A	uc002wpg.2	-	18	2097	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	KIF16B_uc002wpe.1_Silent_p.I28I|KIF16B_uc002wpf.1_Silent_p.I28I|KIF16B_uc010gch.2_Silent_p.I646I|KIF16B_uc010gci.2_Silent_p.I646I|KIF16B_uc010gcj.2_Silent_p.I657I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	646	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGAGCTGCACGATTTCTGTCT	0.502000														58			53		0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56532359	56532359	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:56532359A>T	uc002ejd.2	-	12	1883	c.1649T>A	c.(1648-1650)cTt>cAt	p.L550H	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	550					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTCTCCACTAAGTTTTATTTT	0.363000									Bardet-Biedl syndrome					10			7		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112512487	112512487	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:112512487T>G	uc001ttm.3	-	8	916	c.858A>C	c.(856-858)gaA>gaC	p.E286D	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.E258D|NAA25_uc009zwa.2_Missense_Mutation_p.E286D	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	286						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						ACTGTTCACCTTCAGCAGGAG	0.363000														21			21		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395662	43395663	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43395662_43395663GG>AA	uc001cik.2	-	4	1085_1086	c.560_561CC>TT	c.(559-561)ccc>cTT	p.P187L		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	187					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TCAGCAGCAGGGGCCACAGGTC	0.658000														95			15		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055470	9055470	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9055470G>A	uc003brf.1	-	15	2546	c.1870C>T	c.(1870-1872)Ccc>Tcc	p.P624S	SRGAP3_uc003brg.1_Missense_Mutation_p.P600S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	624	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.L623I(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ACCACGCGGGGAAGGGTGACG	0.547000			T	RAF1	pilocytic astrocytoma									17			37		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19474656	19474656	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19474656T>G	uc002dgc.4	+	6	1952	c.1203T>G	c.(1201-1203)aaT>aaG	p.N401K	TMC5_uc010vaq.2_Missense_Mutation_p.N401K|TMC5_uc002dgb.4_Missense_Mutation_p.N401K|TMC5_uc010var.2_Missense_Mutation_p.N401K|TMC5_uc002dgd.1_Missense_Mutation_p.N155K|TMC5_uc002dge.4_Missense_Mutation_p.N155K|TMC5_uc002dgf.4_Missense_Mutation_p.N84K|TMC5_uc002dgg.4_Missense_Mutation_p.N42K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	401						integral to membrane		p.E400K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCAGCTCAATTGCTGTATTC	0.438000														60			20		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229031	13229031	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13229031C>T	uc001rbi.3	+	10	1619	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	532						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCCTCCATCCTTCTGGATC	0.557000														55			46		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56329936	56329936	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:56329936G>A	uc003haz.1	-	9	1401	c.475C>T	c.(475-477)Cca>Tca	p.P159S	CLOCK_uc003hba.1_Missense_Mutation_p.P159S	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	159	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCCCCTTCTGGGATAAAATTA	0.299000														14			8		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342489	36342489	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36342489T>G	uc002oby.3	-	1	300	c.144A>C	c.(142-144)tcA>tcC	p.S48S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	48	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCTCCACTGAGGCCCCCT	0.682000														30			7		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579860	62579860	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62579860C>T	uc001dab.3	+	34	4711	c.4597C>T	c.(4597-4599)Cct>Tct	p.P1533S	INADL_uc009waf.1_Missense_Mutation_p.P1563S|INADL_uc001daa.2_Missense_Mutation_p.P1505S|INADL_uc001dad.3_Missense_Mutation_p.P1230S|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.P347S|INADL_uc009wag.3_Missense_Mutation_p.P317S|INADL_uc010oou.1_Missense_Mutation_p.P178S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1533	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGATTTTCCCTGTGGATCT	0.567000														29			23		0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471604	39471604	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39471604G>A	uc002hwj.3	-	0	344	c.299C>T	c.(298-300)cCt>cTt	p.P100L		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	100						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCGCATATAGGTGTGGGCTG	0.632000														2			41		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212554	131212554	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:131212554A>C	uc004ewn.3	-	11	1669	c.1491T>G	c.(1489-1491)ttT>ttG	p.F497L	FRMD7_uc022cdy.1_Missense_Mutation_p.F377L|FRMD7_uc011muy.2_Missense_Mutation_p.F482L	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	497					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGTCCACATAAAAAAAGACCT	0.502000														44			66		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947298	45947298	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45947298C>T	uc002zfe.1	-	6	1092	c.1026G>A	c.(1024-1026)gtG>gtA	p.V342V	TSPEAR_uc010gpv.1_Silent_p.V274V	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	342					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGCTGTGGCCACAAAGAGCC	0.552000														54			49		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721139	20721139	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:20721139T>G	uc010kuh.3	+	14	1956	c.1719T>G	c.(1717-1719)ggT>ggG	p.G573G	ABCB5_uc003suw.4_Silent_p.G128G	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	128	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGAGCAAAGGTCGGACTACAA	0.413000														33			9		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842402	14842402	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:14842402C>T	uc003zlm.3	-	9	2466	c.1650G>A	c.(1648-1650)gtG>gtA	p.V550V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	550					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)		CACTGGCGTCCACATCTGAAG	0.512000														63			24		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895410	42895410	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42895410G>A	uc003gwt.3	+	0	128	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	43					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGGCTCTCTGGATTCTGAATG	0.507000														97			47		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684035	6684035	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:6684035T>C	uc010vtg.2	+	1	968	c.848T>C	c.(847-849)cTg>cCg	p.L283P		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	283										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GCCACCAATCTGAAGGTGAAC	0.552000														30			16		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48547127	48547127	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48547127T>G	uc002phu.2	-	0	185	c.53A>C	c.(52-54)gAg>gCg	p.E18A		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	18					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ccGCTGTTTCTCAGCAATGCC	0.632000														43			13		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833417	168833417	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:168833417C>T	uc011bpj.1	-	7	2646	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	MECOM_uc010hwk.1_Missense_Mutation_p.R583Q|MECOM_uc003ffj.3_Missense_Mutation_p.R625Q|MECOM_uc003ffi.3_Missense_Mutation_p.R560Q|MECOM_uc011bpi.1_Missense_Mutation_p.R561Q|MECOM_uc003ffn.3_Missense_Mutation_p.R560Q|MECOM_uc003ffk.2_Missense_Mutation_p.R560Q|MECOM_uc003ffl.2_Missense_Mutation_p.R720Q|MECOM_uc011bpk.1_Missense_Mutation_p.R560Q|MECOM_uc010hwn.2_Missense_Mutation_p.R748Q	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	70							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCATCCTTTCGCTTAGTGGT	0.517000														60			119		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193693	152193693	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152193693C>T	uc001ezt.1	-	2	488	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	138					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATAGGAATCATTCTCTCCT	0.423000														74			42		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124317792	124317792	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124317792T>G	uc001uft.4	+	25	4348	c.4323T>G	c.(4321-4323)acT>acG	p.T1441T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1441	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGACAACACTTTCAACCTGC	0.428000														12			3		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27773116	27773116	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:27773116G>A	uc001zbg.2	+	8	1354	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	367					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATTCCTGAGCGAATAAGCCTA	0.383000														6			4		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44058187	44058187	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44058187A>T	uc001cjr.3	+	10	2068	c.1728A>T	c.(1726-1728)acA>acT	p.T576T	PTPRF_uc001cjs.3_Silent_p.T576T|PTPRF_uc001cju.3_Silent_p.T147T|PTPRF_uc009vwt.3_Silent_p.T147T|PTPRF_uc001cjv.3_Silent_p.T147T	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	576	Fibronectin type-III 3.				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)				AGCCTGACACACTCTACCGCT	0.597000														52			70		0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1826214	1826214	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1826214A>C	uc002cmq.1	+	7	1310	c.1310A>C	c.(1309-1311)gAt>gCt	p.D437A	EME2_uc010brw.1_Missense_Mutation_p.D372A	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	372					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GCCAACCCTGATCTCCTGCTG	0.692000								Direct reversal of damage;Homologous recombination						87			21		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22081824	22081824	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22081824C>T	uc003xbk.4	-	4	1067	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PHYHIP_uc003xbj.4_Missense_Mutation_p.E125K	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	125										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TCAGCTTTCTCCTGAAGCTGA	0.592000														29			26		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120355	38120355	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38120355C>T	uc003atr.3	+	6	2063	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S	TRIOBP_uc003atu.3_Missense_Mutation_p.P426S|TRIOBP_uc003atq.1_Missense_Mutation_p.P598S|TRIOBP_uc003ats.1_Missense_Mutation_p.P426S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	598					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.N597fs*18(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACGAGACAACCCCACAACATC	0.582000														94			47		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38966959	38966959	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38966959G>A	uc021wvy.1	-	4	858	c.659C>T	c.(658-660)cCc>cTc	p.P220L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	220					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTACGCAGGGGCAATAGTTT	0.463000														24			15		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135835	46135835	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46135835C>T	uc003oxz.1	-	1	373	c.165G>A	c.(163-165)atG>atA	p.M55I	ENPP5_uc010jzc.1_Missense_Mutation_p.M55I|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.M55I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	55						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CACCATATTTCATAATATAAT	0.363000														18			8		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792395	143792395	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143792395G>A	uc011kty.2	+	0	195	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H64Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCACACCTGGCCATTGTGG	0.463000														50			25		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197019884	197019884	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197019884C>A	uc001gtt.1	-	9	1725	c.1681G>T	c.(1681-1683)Gga>Tga	p.G561*		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	561	Sushi 9.				blood coagulation	extracellular region		p.G561V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCCCTAGATCCTTCTAGGAAA	0.353000														23			12		1.61879e-10	1.62687e-10	1	1	0
SPTSSB	165679	broad.mit.edu	37	3	161064090	161064090	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:161064090C>T	uc003fee.3	-	2	796	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	SPTSSB_uc021xgx.1_Missense_Mutation_p.E8K	NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	Homo sapiens serine palmitoyltransferase, small subunit B (SPTSSB), mRNA.	8					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										GAGAAATATTCCTTCACACGC	0.413000														3			62		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233897535	233897535	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233897535A>C	uc010zmn.2	+	0	154	c.154A>C	c.(154-156)Att>Ctt	p.I52L		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	52							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGCAGAGCTGATTGTCCTGCG	0.632000														14			7		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41172439	41172439	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41172439C>T	uc003jmk.2	-	8	1389	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	C6_uc003jml.1_Silent_p.E393E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	393	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGCTTCTTCCTCGGTTAAAC	0.423000														9			35		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27398766	27398766	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:27398766A>C	uc001mrj.4	-	11	1533	c.1048T>G	c.(1048-1050)Ttg>Gtg	p.L350V	LGR4_uc001mrk.4_Missense_Mutation_p.L326V	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	350						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTGTAAGACAAGTCCCTTAAA	0.333000														33			8		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603346	47603346	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47603346C>T	uc001cqv.1	+	0	240	c.189C>T	c.(187-189)atC>atT	p.I63I	CYP4A22_uc009vyo.3_Silent_p.I63I|CYP4A22_uc009vyp.3_Silent_p.I63I	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	63						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGGGCACATCCAGGAGGTAG	0.587000														32			21		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313488	31313488	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31313488G>A	uc003jhe.2	+	7	1677	c.1317G>A	c.(1315-1317)tcG>tcA	p.S439S	CDH6_uc003jhd.2_Silent_p.S439S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	439	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAATGGTTCGATTTTTACAT	0.393000														200			30		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873090	51873090	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:51873090G>T	uc002xwo.3	+	1	3980	c.3093G>T	c.(3091-3093)gtG>gtT	p.V1031V	TSHZ2_uc021wex.1_Silent_p.V1028V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	1031					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAACAGACGTGGATGAAGAAT	0.493000														93			27		3.90053e-15	3.92567e-15	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70646763	70646763	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70646763G>A	uc003pfc.1	+	7	951	c.834G>A	c.(832-834)aaG>aaA	p.K278K	COL19A1_uc010kam.2_Silent_p.K174K	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	278					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGCCAGCAAAGCAGGAACTTA	0.443000														35			18		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55942362	55942362	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55942362C>T	uc003pcs.3	-	17	2054	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	COL21A1_uc010jzz.3_5'UTR|COL21A1_uc011dxg.2_5'UTR|COL21A1_uc011dxh.2_5'UTR|COL21A1_uc003pcr.3_5'UTR	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	608	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAGGAAATCCTGGGATTCCC	0.328000														6			9		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145635493	145635493	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:145635493C>T	uc003ijs.2	+	8	2220	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	514						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.D513N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTTTGGAGATCGTAATGGGTA	0.388000														14			18		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12574842	12574842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12574842G>A	uc002mtv.4	-	3	2055	c.1894C>T	c.(1894-1896)Cga>Tga	p.R632*	ZNF709_uc002mtw.4_Nonsense_Mutation_p.R600*|ZNF709_uc002mtx.4_Nonsense_Mutation_p.R632*	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAAAGGAACGG	0.368000														95			83		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259912	71259912	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71259912G>A	uc001oqs.1	+	0	447	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	70	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTCCAAGGGAGGCTGTGGT	0.627000														152			113		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55980310	55980310	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:55980310C>T	uc003has.3	-	5	1083	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	KDR_uc003hat.1_Missense_Mutation_p.E261K|KDR_uc011bzx.2_Missense_Mutation_p.E261K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	261	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGGGTATTCCCAGTTGAAG	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				44			72		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131880121	131880121	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131880121C>T	uc003ytd.4	-	8	2437	c.2181G>A	c.(2179-2181)acG>acA	p.T727T	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	727					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGTATTGCCGTGATAAATA	0.353000										HNSCC(32;0.087)				34			13		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192257	125192257	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:125192257C>T	uc010flu.3	+	4	1090	c.726C>T	c.(724-726)ctC>ctT	p.L242L	CNTNAP5_uc002tno.3_Silent_p.L242L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	242	Laminin G-like 1.				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)		CCCTACACCTCAATTTGGGTA	0.537000														8			3		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699219	43699219	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43699219C>T	uc002ovy.3	-	3	1018	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.G213R	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	306	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATAAGGTCCTGTTTCATTT	0.498000														138			116		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260841	32260841	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32260841C>T	uc021yvt.1	-	22	1782	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E454K|C6orf10_uc011dpz.2_Missense_Mutation_p.E535K|C6orf10_uc021yvu.1_Missense_Mutation_p.E535K|C6orf10_uc021yvv.1_Missense_Mutation_p.E521K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	537	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCATTGAtttctgattctctc	0.348000														38			31		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501766	134501766	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134501766A>T	uc022bos.1	-	9	1407	c.1248T>A	c.(1246-1248)tcT>tcA	p.S416S	RAPGEF1_uc022bot.1_Silent_p.S398S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Silent_p.S403S|RAPGEF1_uc022bov.1_Silent_p.S403S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	398					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGTCTGCGTTAGAGAGGTCTT	0.557000														95			19		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390587	48390587	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:48390587C>T	uc001jez.3	-	0	405	c.291G>A	c.(289-291)gaG>gaA	p.E97E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	97	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGGGGGAGGCTCGGGGGTGC	0.632000														6			39		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34567576	34567576	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:34567576A>G	uc001zhw.3	-	1	450	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	SLC12A6_uc001zhv.3_Missense_Mutation_p.S45P|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Intron|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.S37P|SLC12A6_uc001zib.3_Missense_Mutation_p.S87P|SLC12A6_uc001zic.3_Missense_Mutation_p.S96P|SLC12A6_uc010bau.3_Missense_Mutation_p.S96P|SLC12A6_uc001zid.3_Missense_Mutation_p.S37P|SLC12A6_uc001zhu.3_5'UTR	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	96					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTGTGATGGAGTTCTGACTC	0.338000														5			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635956	179635956	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179635956C>T	uc021vsy.1	-	33	8323	c.8098G>A	c.(8098-8100)Gcc>Acc	p.A2700T	TTN_uc021vsz.1_Missense_Mutation_p.A2654T|TTN_uc021vta.1_Missense_Mutation_p.A2654T|TTN_uc021vtb.1_Missense_Mutation_p.A2654T|TTN_uc002unb.2_Missense_Mutation_p.A2700T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2700	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAGTTTGGCAGATGTTTTG	0.383000														32			9		0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74439604	74439604	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74439604A>T	uc010tuo.2	-	12	1321	c.1010T>A	c.(1009-1011)gTt>gAt	p.V337D	ENTPD5_uc001xpi.3_Missense_Mutation_p.V337D	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	337					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCTGTGTCAACAGCTCGGTC	0.517000														170			42		0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128810152	128810153	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:128810152_128810153GG>AA	uc003eln.2	-	2	740_741	c.425_426CC>TT	c.(424-426)tcc>tTT	p.S142F	ISY1-RAB43_uc003elo.2_3'UTR|RAB43_uc021xdo.1_3'UTR|RAB43_uc010hsy.2_3'UTR|RAB43_uc021xdp.1_Missense_Mutation_p.S142F|RAB43_uc021xdq.1_Missense_Mutation_p.S142F|RAB43_uc021xdr.1_Missense_Mutation_p.S142F|RAB43_uc021xds.1_Missense_Mutation_p.S142F	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	Homo sapiens RAB43, member RAS oncogene family (RAB43), transcript variant 1, mRNA.	142					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						CCTCAGCCAAGGAGACCTCCCG	0.629000														12			5		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5739354	5739354	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5739354T>G	uc002mda.3	+	6	538	c.477T>G	c.(475-477)gtT>gtG	p.V159V	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	159						integral to membrane											GTAATTTGGTTTTTGCATATT	0.333000														44			20		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391070	391070	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:391070A>C	uc003bot.3	+	9	1519	c.877A>C	c.(877-879)Att>Ctt	p.I293L	CHL1_uc003bou.3_Missense_Mutation_p.I277L|CHL1_uc003bow.2_Missense_Mutation_p.I277L|CHL1_uc011asi.2_Missense_Mutation_p.I293L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	277	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGAACAAAATTGGTGGTGA	0.348000														38			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280316	152280316	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152280316C>T	uc001ezu.1	-	2	7082	c.7046G>A	c.(7045-7047)gGa>gAa	p.G2349E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2349	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAAGCTTGTCCGTGCCCAAT	0.552000									Ichthyosis					311			112		0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13152313	13152313	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:13152313T>G	uc001ilu.1	+	4	644	c.206T>G	c.(205-207)tTt>tGt	p.F69C	OPTN_uc001ilv.1_Missense_Mutation_p.F69C|OPTN_uc001ilw.1_Missense_Mutation_p.F69C|OPTN_uc001ilx.1_Missense_Mutation_p.F69C|OPTN_uc001ily.1_Missense_Mutation_p.F69C|OPTN_uc010qbr.1_Missense_Mutation_p.F12C	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	69	Interaction with Rab8.				Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAAGGGAGATTTGAGGAGCTT	0.458000														22			5		0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959408	75959408	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:75959408T>C	uc011kgj.1	-	1	447	c.230A>G	c.(229-231)aAg>aGg	p.K77R		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	77					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTCAATCTTCTTCTCATTGCC	0.537000														207			6		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75932988	75932988	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:75932988G>A	uc003kek.3	+	15	2132	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	IQGAP2_uc010izv.2_Missense_Mutation_p.G190E|IQGAP2_uc011csv.2_Missense_Mutation_p.G190E|IQGAP2_uc003kel.3_Missense_Mutation_p.G190E	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	637					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGGCTCACAGGAAAAGAAATC	0.363000														27			16		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50169104C>T	uc002ppa.3	+	0	706	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.F8F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000														51			43		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236516	47236516	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47236516A>C	uc002ion.2	+	5	855	c.796A>C	c.(796-798)Aag>Cag	p.K266Q	B4GALNT2_uc010wlt.1_Missense_Mutation_p.K180Q|B4GALNT2_uc010wlu.1_Missense_Mutation_p.K206Q	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	266					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GAAGCTGTTGAAGTTCATTCT	0.532000														132			65		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722310	196722310	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196722310G>A	uc002utj.4	-	43	8306	c.8205C>T	c.(8203-8205)ttC>ttT	p.F2735F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2735	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CTGGGCCCCAGAAATCCTCAA	0.408000														38			14		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848501	73848501	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73848501G>A	uc003xzb.3	+	2	1499	c.911G>A	c.(910-912)cGa>cAa	p.R304Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	304					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATCTTCCGAATCATGCGC	0.532000														29			34		0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202503724	202503724	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:202503724T>G	uc021vvg.1	-	3	225	c.124A>C	c.(124-126)Aaa>Caa	p.K42Q	TMEM237_uc021vvd.1_5'UTR|TMEM237_uc021vve.1_Missense_Mutation_p.K34Q|TMEM237_uc021vvf.1_5'UTR|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	66						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGTGTGTTTTTTGTTCTGGGC	0.398000														4			3		0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508745	70508746	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70508745_70508746GG>AA	uc010cft.3	+	17	2362_2363	c.2304_2305GG>AA	c.(2302-2307)ctgggc>ctAAgc	p.G769S	FUK_uc002eyy.3_Missense_Mutation_p.G737S|FUK_uc002eyz.3_Missense_Mutation_p.G228S	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	737						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGGCTGTGCTGGGCCTGGCTGT	0.688000														1			9		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49155497	49155497	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49155497G>A	uc003cwd.2	-	2	500	c.181C>T	c.(181-183)Cct>Tct	p.P61S	USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Missense_Mutation_p.P61S|USP19_uc003cvz.4_Missense_Mutation_p.P61S|USP19_uc011bcg.2_Missense_Mutation_p.P61S|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P61S|USP19_uc011bci.2_Missense_Mutation_p.P61S	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	61					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		gaggcagaaggatcacctgag	0.522000														14			7		0	0	1	0	0
HSPB2	3316	broad.mit.edu	37	11	111784382	111784382	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111784382C>T	uc001pmg.2	+	1	406	c.312C>T	c.(310-312)ccC>ccT	p.P104P	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.	104					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCCGGCACCCCCAGCGCCTGG	0.627000														30			15		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822439	26822440	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26822439_26822440GG>AA	uc001iss.3	+	8	1206_1207	c.885_886GG>AA	c.(883-888)aaggaa>aaAAaa	p.E296K	APBB1IP_uc009xks.1_Missense_Mutation_p.E296K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	296					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTAAGAACAAGGAATCCTTACT	0.322000														17			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152520238	152520238	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152520238C>T	uc021vrb.1	-	42	5616	c.5587G>A	c.(5587-5589)Gag>Aag	p.E1863K	NEB_uc002txu.3_Missense_Mutation_p.E1863K|NEB_uc021vrc.1_Missense_Mutation_p.E1863K|NEB_uc010fnx.3_Missense_Mutation_p.E1863K|NEB_uc021vrd.1_Missense_Mutation_p.E1863K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1863					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGATTTCTCATATCCCTTC	0.537000														16			8		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737677	247737677	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247737677C>T	uc001idf.3	+	4	548	c.401C>T	c.(400-402)cCa>cTa	p.P134L	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	134										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			GTTGTGTTTCCACACTAAAAT	0.443000														40			25		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67694198G>A	uc002etq.4	-	0	521	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ACD_uc002etp.4_Missense_Mutation_p.L62F|ACD_uc002etr.4_Missense_Mutation_p.L62F|ACD_uc010vjt.1_Missense_Mutation_p.L52F|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(2)|p.P61S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736000														2			20		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454998	66454998	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66454998G>A	uc001ojd.3	-	33	6694	c.6622C>T	c.(6622-6624)Ctg>Ttg	p.L2208L	SPTBN2_uc001ojc.1_Silent_p.P68P	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2208					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGAGGCGGCAGGGTGGCAGCA	0.677000														51			47		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46930089	46930089	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46930089C>T	uc002zhi.3	+	38	4168	c.4147C>T	c.(4147-4149)Cgc>Tgc	p.R1383C	COL18A1_uc002zhg.3_Missense_Mutation_p.R1203C|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.R181C|COL18A1_uc002zhk.3_Missense_Mutation_p.R25C	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1618	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCACCTTCCGCGCCTTCCT	0.711000														0			7		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926553	6926553	+	Silent	SNP	G	A	A	rs150705433		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6926553G>A	uc002mfw.3	+	15	2201	c.2163G>A	c.(2161-2163)ccG>ccA	p.P721P	EMR1_uc010dvc.3_Silent_p.P656P|EMR1_uc010dvb.3_Silent_p.P669P|EMR1_uc010xji.2_Silent_p.P580P|EMR1_uc010xjj.2_Silent_p.P544P	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	721					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.P721P(2)		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)					ATGGGCTGCCGATGCTGGTGG	0.512000														56			51		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5975406	5975406	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:5975406G>A	uc003git.2	-	3		c.1686C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCCGGAGCCAGGAAGGTGGCC	0.637000														10			90		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795725	33795725	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:33795725A>T	uc002kzq.4	+	7	1605	c.1582A>T	c.(1582-1584)Agc>Tgc	p.S528C		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	528					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGGCAGACGTAGCCTCTCGCC	0.602000														15			6		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54161968	54161968	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:54161968T>G	uc004dsz.4	-	5	1411	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	FAM120C_uc011moh.2_Missense_Mutation_p.K443T	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	443										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TACCATTGGCTTTCCAGCAGA	0.418000														10			3		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173496	51173496	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:51173496C>T	uc021tif.1	-	1	2668	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	SALL1_uc021tid.1_Silent_p.E782E|SALL1_uc021tie.1_Silent_p.E879E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	879					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin 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)			CCTGTAGCTGCTCTGCCAGGC	0.532000														19			14		0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20407340	20407340	+	RNA	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:20407340A>G	uc002gxb.3	-	0		c.472T>C								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CACCTTGTCCAGGTAGGAGGC	0.612000														123			26		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635336	7635336	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7635336G>A	uc001qsz.3	-	13	3278	c.3150C>T	c.(3148-3150)tcC>tcT	p.S1050S	CD163_uc001qta.3_Silent_p.S1050S|CD163_uc009zfw.2_Silent_p.S1083S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1050					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGCAATAAAGGATGACTGAC	0.423000														45			44		0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701264	139701264	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139701264A>T	uc004cjf.3	+	11	1394	c.1334A>T	c.(1333-1335)gAg>gTg	p.E445V	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.3_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|LOC100131193_uc004cjg.1_Intron	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	Homo sapiens KIAA1984 (KIAA1984), mRNA.	445										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCGTACTGCGAGGGGAAGCTC	0.627000														17			9		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184790	69184790	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:69184790A>T	uc002ews.4	+	7	1081	c.985A>T	c.(985-987)Aaa>Taa	p.K329*	CIRH1A_uc002ewr.2_Nonsense_Mutation_p.K329*|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.K246*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.K246*|CIRH1A_uc010cfj.1_Nonsense_Mutation_p.K148*	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	329						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGCTCTCCGAAAAATCACCTT	0.537000														25			14		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860379	96860379	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96860379A>G	uc010mrj.2	+	5	1633	c.1531A>G	c.(1531-1533)Agt>Ggt	p.S511G	PTPDC1_uc004auf.2_Missense_Mutation_p.S457G|PTPDC1_uc004aug.2_Missense_Mutation_p.S457G|PTPDC1_uc004auh.2_Missense_Mutation_p.S509G|PTPDC1_uc010mri.2_Missense_Mutation_p.S509G	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	457							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCTTTCTGGAGTCAGTCAAA	0.483000														33			8		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3189422	3189422	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:3189422C>T	uc021xkv.1	+	38	5179	c.5034C>T	c.(5032-5034)gcC>gcT	p.A1678A		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1678					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATTCTGGCCATTTTGAGGG	0.383000														5			69		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327493	67327493	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67327493T>C	uc002esu.2	-	11	2223	c.2172A>G	c.(2170-2172)agA>agG	p.R724R	KCTD19_uc002est.2_Silent_p.R496R|KCTD19_uc010vjj.1_Silent_p.R467R	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	724						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGTGCCAGCTCTTTTTGGGG	0.547000														85			10		0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178507032C>T	uc003mju.3	+	4	1714	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383000														22			27		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546817	43546817	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43546817T>G	uc003tid.1	+	21	4318	c.3713T>G	c.(3712-3714)cTg>cGg	p.L1238R	HECW1_uc011kbi.1_Missense_Mutation_p.L1204R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1238					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACAGAAAACTGGAAGCCAAA	0.498000														79			13		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754635	94754635	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94754635T>A	uc001yct.3	-	2	1446	c.980A>T	c.(979-981)aAc>aTc	p.N327I	SERPINA10_uc001ycu.4_Missense_Mutation_p.N327I	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	327					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTTCATGTTTCTGAGCCA	0.483000														67			20		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067065	106067065	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106067065C>T	uc001yrw.1	-	3	762	c.750G>A	c.(748-750)acG>acA	p.T250T	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.T197T|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GACAGGTGATCGTGGGCGACT	0.637000														47			15		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371765	240371765	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240371765C>T	uc010pye.2	+	5	3890	c.3665C>T	c.(3664-3666)cCa>cTa	p.P1222L	FMN2_uc010pyd.2_Missense_Mutation_p.P1218L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1218	FH1.|Pro-rich.				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	p.P1222P(1)		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)			ATGGGGATTCCACCTGCTCCA	0.647000														8			5		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3660346	3660346	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3660346T>A	uc002fwo.4	-	9	1202	c.1103A>T	c.(1102-1104)aAg>aTg	p.K368M		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	368	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTTGGTCACCTTGAAAGCATG	0.577000														206			83		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45898936	45898936	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45898936G>A	uc002pbn.3	-	6	1189	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	PPP1R13L_uc002pbm.3_5'Flank|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P371L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P371L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	371	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CATGCTGAGGGGGATGGGACG	0.731000														2			6		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934968	10934968	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10934968G>A	uc002yip.1	-	14	1193	c.825C>T	c.(823-825)caC>caT	p.H275H	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.H257H|TPTE_uc002yir.1_Silent_p.H237H|TPTE_uc010gkv.1_Silent_p.H137H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	275	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AGTGGTTTCGGTGTTTCTTAT	0.358000														57			7		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111695344	111695344	+	Missense_Mutation	SNP	T	G	G	rs143255461	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111695344T>G	uc003puy.4	-	12	4555	c.4214A>C	c.(4213-4215)aAt>aCt	p.N1405T	REV3L_uc003pux.4_Missense_Mutation_p.N1327T|REV3L_uc003puz.4_Missense_Mutation_p.N1327T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1405					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTAGGGAATTGCGATATTC	0.373000								DNA polymerases (catalytic subunits)						34			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3019712	3019712	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3019712G>A	uc022aqr.1	-	37	6203	c.5813C>T	c.(5812-5814)tCc>tTc	p.S1938F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1331F|CSMD1_uc003wqe.3_Missense_Mutation_p.S1095F|CSMD1_uc010lrg.3_Missense_Mutation_p.S7F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1939	Sushi 11.					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)		GCACTGGAAGGAGAGCACGTC	0.507000														8			6		0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76736817	76736817	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76736817T>C	uc003kff.1	-	8	990	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	WDR41_uc011csy.1_Missense_Mutation_p.S177G|WDR41_uc011csz.1_Missense_Mutation_p.S180G|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	235										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GTGACAAAACTCAAATCTAGG	0.448000														10			5		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143047534	143047534	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143047534C>T	uc003wcr.1	+	20	2560	c.2473C>T	c.(2473-2475)Ccc>Tcc	p.P825S	CLCN1_uc011ktc.1_Missense_Mutation_p.P437S	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	825	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGACCAGTCTCCCTTCCAGCT	0.557000														23			17		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105160235	105160235	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105160235A>G	uc001kwy.1	+	2	271	c.184A>G	c.(184-186)Aga>Gga	p.R62G		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	62					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AATCGAAAAGAGAGAAAGCAG	0.403000														48			7		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290025	62290026	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62290025_62290026GG>AT	uc002jed.3	-	1	1703_1704	c.1552_1553CC>AT	c.(1552-1554)cca>ATa	p.P518I	TEX2_uc002jec.3_Missense_Mutation_p.P518I|TEX2_uc002jee.3_Missense_Mutation_p.P518I	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	518					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCACTTGGTGGTGTAAAAAAC	0.441000														45			94		0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126499	32126499	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32126499A>T	uc003jhp.1	-	3	1001	c.716T>A	c.(715-717)cTc>cAc	p.L239H		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	239					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CAGGTAAATGAGGGCCAGCAA	0.517000														94			16		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143771320G>A	uc011ktx.2	+	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000														47			42		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134945	27134945	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:27134945G>A	uc003sye.3	-	0	681	c.587C>T	c.(586-588)tCg>tTg	p.S196L	HOXA1_uc003syd.3_Silent_p.I128I|HOXA1_uc022aao.1_Missense_Mutation_p.S196L|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	196						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A195T(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGATGTCTCCGATGCGGGGGA	0.537000														103			29		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40462855	40462855	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40462855T>C	uc001zkx.4	+	3	569	c.357T>C	c.(355-357)ccT>ccC	p.P119P		NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	119	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATAGTGATCCTCGATTTCTCA	0.353000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					12			12		0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	168986231	168986231	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168986231G>A	uc002uea.3	-	8	1172	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	338					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTGGCTTTCTGGAAGAATTTG	0.328000														57			14		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898785	134898785	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:134898785G>A	uc003eqt.3	+	9	2218	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	EPHB1_uc003equ.3_Missense_Mutation_p.D176N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	615						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAAGGAGATTGATGTATCTTT	0.478000														110			29		0	0	1	0	0
PLAC1L	219990	broad.mit.edu	37	11	59807962	59807962	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59807962T>G	uc001nol.3	+	0	215	c.30T>G	c.(28-30)gcT>gcG	p.A10A		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	10						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGCTCCTCGCTGTCTTGATTT	0.473000														69			15		0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93651957	93651957	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:93651957T>G	uc021opx.1	+	3	520	c.359T>G	c.(358-360)cTa>cGa	p.L120R		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	120										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGAGAGAAACTAAATAAACTT	0.318000														25			13		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33513541	33513541	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33513541A>C	uc002hja.3	+	19	2856	c.2759A>C	c.(2758-2760)aAg>aCg	p.K920T	UNC45B_uc002hjb.3_Missense_Mutation_p.K918T|UNC45B_uc002hjc.3_Missense_Mutation_p.K918T|UNC45B_uc010cto.3_Missense_Mutation_p.K839T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	920					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGTCTCATCAAGTGCATGGAT	0.527000														35			3		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6556179	6556179	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6556179G>A	uc003zkc.3	-	17	2369	c.2176C>T	c.(2176-2178)Cta>Tta	p.L726L		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	726					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCCCCGTCTAGGTAGACCTGT	0.453000														4			24		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791510	51791510	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:51791510T>G	uc010ufy.2	-	17	4136	c.3911A>C	c.(3910-3912)aAt>aCt	p.N1304T	DMXL2_uc002abf.3_Missense_Mutation_p.N1304T|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1304						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCCAGCATATTAGATTTAAA	0.393000														47			11		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22145065	22145065	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22145065G>A	uc003xbn.2	+	6	916	c.768G>A	c.(766-768)atG>atA	p.M256I	PIWIL2_uc011kzf.1_Missense_Mutation_p.M256I|PIWIL2_uc010ltv.2_Missense_Mutation_p.M256I	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	256					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCAAAAGCATGAGGTTCGGCA	0.453000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			40		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476217	52476217	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52476217A>C	uc003dea.1	-	3	443	c.443T>G	c.(442-444)gTt>gGt	p.V148G		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	148	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACGGTGGCCAACTGTGATGAG	0.642000														23			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141705447	141705447	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141705447G>A	uc003vwy.3	+	1	171	c.117G>A	c.(115-117)ctG>ctA	p.L39L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	39	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAGTCACTGAAATCAACAG	0.358000														10			8		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870169	131870169	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:131870169T>C	uc003vra.4	-	15	3276	c.3047A>G	c.(3046-3048)gAg>gGg	p.E1016G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1016	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTCATCTCTAGCACCTC	0.567000														75			7		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21464783	21464783	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21464783T>C	uc002kuq.3	+	40	5355	c.5269T>C	c.(5269-5271)Tgc>Cgc	p.C1757R	LAMA3_uc002kur.3_Missense_Mutation_p.C1757R|LAMA3_uc002kus.4_Missense_Mutation_p.C148R|LAMA3_uc002kut.4_Missense_Mutation_p.C148R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1757	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGTGCTCCTGCAAAGCTGG	0.582000														147			5		0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240981428	240981428	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:240981428G>A	uc010zod.2	-	0	972	c.972C>T	c.(970-972)gcC>gcT	p.A324A		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	324										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGGATGAAGAGGCATGGACGA	0.602000														41			43		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978545	40978545	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40978545G>A	uc002ony.3	+	1	103	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SPTBN4_uc002onx.3_Missense_Mutation_p.G6E|SPTBN4_uc002onz.3_Missense_Mutation_p.G6E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	6	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|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)			CAGGTACCAGGGGAAGTGGAC	0.607000														12			11		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29041282	29041282	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29041282T>G	uc001bra.3	+	9	1861	c.1719T>G	c.(1717-1719)gaT>gaG	p.D573E	GMEB1_uc001bqz.3_Missense_Mutation_p.D563E|GMEB1_uc001brb.3_Missense_Mutation_p.D563E	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTAGAGGATTAACTGGGGA	0.408000														70			16		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808596	241808596	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241808596G>A	uc002waa.4	+	1	296	c.175G>A	c.(175-177)Gag>Aag	p.E59K	AGXT_uc010zoi.1_Missense_Mutation_p.E59K	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	59					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GATCATGGACGAGATCAAGGA	0.617000														70			15		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114860887	114860887	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:114860887A>C	uc010mui.3	-	9	1378	c.1337T>G	c.(1336-1338)tTt>tGt	p.F446C	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.F446C|SUSD1_uc010muj.3_Missense_Mutation_p.F446C			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	446						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGAAGTTAAACGATGTTGC	0.428000														35			3		0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11545755	11545755	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11545755T>C	uc002mrs.3	-	0	226	c.83A>G	c.(82-84)aAg>aGg	p.K28R	CCDC151_uc010dxz.3_Missense_Mutation_p.K28R|PRKCSH_uc002mrt.3_5'Flank|PRKCSH_uc002mru.3_5'Flank|PRKCSH_uc010xlz.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.3_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	28										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTCCCTGCCCTTGACCCTGGA	0.662000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			4		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924673	150924673	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150924673G>A	uc003lue.4	-	8	6028	c.6015C>T	c.(6013-6015)ctC>ctT	p.L2005L		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2005	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCATTCAAGAGAAAGTAGG	0.502000														20			26		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50853016	50853016	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50853016C>T	uc003blb.2	+	5	872	c.450C>T	c.(448-450)atC>atT	p.I150I	PPP6R2_uc003blc.3_Silent_p.I150I|PPP6R2_uc003bky.2_Silent_p.I150I|PPP6R2_uc003bla.2_Silent_p.I150I|PPP6R2_uc003bkz.2_Silent_p.I150I	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	150						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACAAGTTCATCAGCCTGGTGT	0.592000														47			41		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45808530	45808530	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45808530C>T	uc002xsm.3	+	12	1657	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Missense_Mutation_p.S398F	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	428					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTGACCCACTCCCTGAAGGCA	0.552000														15			7		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970443	101970443	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:101970443G>A	uc022cbh.1	+	0	646	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.E216K|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.E216K|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.E216K|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.E216K|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.E216K|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.E216K|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.E216K	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	216						cytoplasm	protein binding										CAGGGCCAGAGAGGAGGCCTC	0.552000														64			51		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686365	100686365	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100686365C>T	uc003uxp.1	+	2	11721	c.11668C>T	c.(11668-11670)Cct>Tct	p.P3890S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3890						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTAGCTTTCCTGGGGCCAG	0.478000														63			69		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50904928	50904928	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50904928A>C	uc001zyt.4	-	15	2151	c.1869T>G	c.(1867-1869)aaT>aaG	p.N623K	TRPM7_uc010bew.2_Missense_Mutation_p.N623K|TRPM7_uc001zyu.3_Missense_Mutation_p.N181K	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	623					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTAAAAGTTCATTAAGTGGAT	0.383000														36			11		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839875	71839875	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:71839875C>T	uc010fen.3	+	38	4467	c.4326C>T	c.(4324-4326)tcC>tcT	p.S1442S	DYSF_uc010fei.3_Silent_p.S1441S|DYSF_uc010feh.3_Silent_p.S1410S|DYSF_uc002sig.4_Silent_p.S1410S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.S1455S|DYSF_uc010fee.3_Silent_p.S1424S|DYSF_uc010fef.3_Silent_p.S1441S|DYSF_uc002sie.3_Silent_p.S1424S|DYSF_uc010feo.3_Silent_p.S1456S|DYSF_uc010fej.3_Silent_p.S1411S|DYSF_uc010fel.3_Silent_p.S1411S|DYSF_uc010fem.3_Silent_p.S1425S|DYSF_uc002sif.3_Silent_p.S1425S|DYSF_uc010fek.3_Silent_p.S1442S|DYSF_uc010yqy.2_Silent_p.S305S|DYSF_uc010yqz.2_Silent_p.S164S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1424						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCATCCGCTCCCTGGAGAGCT	0.652000														28			9		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66249785	66249785	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66249785C>T	uc001oig.1	+	1	176	c.114C>T	c.(112-114)tcC>tcT	p.S38S	DPP3_uc001oif.1_Silent_p.S38S|DPP3_uc010rpe.1_Silent_p.S57S	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	38					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACCACCTGTCCCGTGCCGCCT	0.647000														47			29		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053512	106053512	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106053512T>G	uc001yrt.3	-	3	834	c.803A>C	c.(802-804)aAg>aCg	p.K268T	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		AGTCAGGTACTTCTCGCGGGG	0.647000														23			7		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923417	226923417	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226923417G>A	uc010pvo.2	-	1	2083	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	ITPKB_uc001hqh.3_Silent_p.A581A	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	581							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCTCCTCCAAGGCCCCATCCT	0.602000														27			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469771	179469771	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179469771C>T	uc021vsy.1	-	228	46654	c.46429G>A	c.(46429-46431)Gtt>Att	p.V15477I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V9172I|TTN_uc021vta.1_Missense_Mutation_p.V9105I|TTN_uc021vtb.1_Missense_Mutation_p.V8980I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16404	Fibronectin type-III 12.						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)			GAAGCAGTAACTGTGTAAGTG	0.458000														64			101		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170797441	170797441	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:170797441C>T	uc003fhh.2	-	28	3659	c.3314_splice	c.e28-1	p.G1105_splice	TNIK_uc003fhi.2_Splice_Site_p.G1050_splice|TNIK_uc003fhj.2_Splice_Site_p.G1076_splice|TNIK_uc003fhk.2_Splice_Site_p.G1097_splice|TNIK_uc003fhl.2_Splice_Site_p.G1021_splice|TNIK_uc003fhm.2_Splice_Site_p.G1042_splice|TNIK_uc003fhn.2_Splice_Site_p.G1068_splice|TNIK_uc003fho.2_Splice_Site_p.G1013_splice|TNIK_uc003fhg.2_Splice_Site_p.G283_splice|TNIK_uc003fhp.3_Splice_Site_p.G37_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1105	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTCTTCTTTCCTGTTGAAAT	0.333000														11			23		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994779	121994779	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121994779G>A	uc003eew.4	+	4	1936	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	CASR_uc003eev.4_Missense_Mutation_p.D500N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	500					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCCCCAGAGGATGGCTCCAT	0.478000														7			156		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756164	145756165	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145756164_145756165GG>AA	uc003zds.1	-	11	3626_3627	c.3071_3072CC>TT	c.(3070-3072)ccc>cTT	p.P1024L	C8orf82_uc003zdp.1_5'Flank|C8orf82_uc003zdq.1_5'Flank|ARHGAP39_uc011llk.1_Missense_Mutation_p.P993L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P993L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	993	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCGCCGCCTCGGGGCTGTCGTA	0.678000														38			10		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804202	151804202	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151804202C>T	uc001ezh.3	-	1	148	c.40_splice	c.e1+1	p.E14_splice	RORC_uc010pdo.2_Splice_Site|RORC_uc010pdp.2_Splice_Site_p.E14_splice	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	14	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTACCCCGTGAGGCTC	0.662000														73			69		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107395912	107395912	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:107395912A>C	uc003veq.3	+	4	746	c.416A>C	c.(415-417)aAa>aCa	p.K139T	CBLL1_uc011kme.2_Missense_Mutation_p.K18T|CBLL1_uc011kmf.2_Missense_Mutation_p.K138T	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	139					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTACATGAAAAAAAGGGAGAT	0.269000														97			6		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959759	157959759	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:157959759G>A	uc003wno.3	-	5	895	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PTPRN2_uc003wnp.3_Silent_p.P241P|PTPRN2_uc003wnq.3_Silent_p.P258P|PTPRN2_uc003wnr.3_Silent_p.P220P|PTPRN2_uc011kwa.2_Silent_p.P281P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	258						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P257L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCCCTCCCCGGGGGGAGCTG	0.652000														9			13		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654729	35654729	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35654729C>T	uc003jjo.3	+	6	990	c.879C>T	c.(877-879)atC>atT	p.I293I	SPEF2_uc003jjn.1_Silent_p.I293I|SPEF2_uc003jjq.4_Silent_p.I293I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	293					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAAAAAATCCAGAAGCGCC	0.418000														53			18		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947882	35947882	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:35947882C>T	uc003anx.3	+	2	809	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	RASD2_uc003any.3_Missense_Mutation_p.R202C	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	202	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGCCCTGCATCGCAAGATCTC	0.612000														40			42		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562821	21562821	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:21562821G>A	uc009zzs.3	-	3	1463	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	LATS2_uc001unr.4_Silent_p.S366S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	366					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTGCTGGACGGAGGTGCTGC	0.721000														36			17		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18020473	18020474	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18020473_18020474CC>AT	uc010gqw.1	+	12	1796_1797	c.1796_1797CC>AT	c.(1795-1797)ccc>cAT	p.P599H	CECR2_uc010gqv.1_Missense_Mutation_p.P460H|CECR2_uc002zml.2_Missense_Mutation_p.P460H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	643					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCCAGGCACCCTTTTTAAACC	0.525000														55			30		0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56174988	56174988	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56174988A>G	uc002qlu.3	+	6	1675	c.620A>G	c.(619-621)gAg>gGg	p.E207G	U2AF2_uc002qlt.3_Missense_Mutation_p.E207G	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	207	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCAGTGGACGAGACTACCCAG	0.547000														321			13		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605574	50605574	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50605574C>T	uc003tpg.4	-	3	620	c.419G>A	c.(418-420)gGg>gAg	p.G140E	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.G140E|DDC_uc022adb.1_Missense_Mutation_p.G102E|DDC_uc022adc.1_Missense_Mutation_p.G140E|DDC_uc022add.1_Missense_Mutation_p.G140E|DDC_uc022adf.1_Missense_Mutation_p.G140E|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	140	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACTCCTCCCCCTTCTCCAGC	0.557000														73			40		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521768	89521768	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:89521768G>A	uc003dqy.3	+	16	3071	c.2846_splice	c.e16+1	p.D949_splice	EPHA3_uc021xbf.1_Intron	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	949	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATTTCCACAGAGTAAGAAAA	0.383000										TSP Lung(6;0.00050)				16			39		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254932	79254932	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:79254932G>A	uc002snw.3	+	5	419	c.334_splice	c.e5-1	p.G112_splice	REG3G_uc002snx.3_Splice_Site_p.G112_splice|REG3G_uc010ffu.3_Splice_Site_p.G66_splice	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	112	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTATAGGGCTCTGAGC	0.517000														73			35		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475728	120475728	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:120475728C>T	uc004bjz.3	+	2	1613	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	TLR4_uc004bkb.3_Missense_Mutation_p.S241L|TLR4_uc004bka.3_Missense_Mutation_p.S401L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	441					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGTGAGTTTTCAGTATTCCTA	0.383000														50			23		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352492	103352492	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103352492C>T	uc001dum.3	-	62	5083	c.4765G>A	c.(4765-4767)Gaa>Aaa	p.E1589K	COL11A1_uc001duk.3_Missense_Mutation_p.E773K|COL11A1_uc001dul.3_Missense_Mutation_p.E1577K|COL11A1_uc001dun.3_Missense_Mutation_p.E1538K|COL11A1_uc009weh.3_Missense_Mutation_p.E1461K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1577	Fibrillar collagen NC1.				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)		AATATTTCTTCCATTCCATCC	0.403000														55			56		0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007541	99007541	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:99007541G>A	uc001tfv.3	-	2	985	c.875C>T	c.(874-876)tCc>tTc	p.S292F	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	292					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCTAAACGGGAAAAGTCCTT	0.348000														2			27		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92612806	92612806	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92612806C>T	uc001doo.3	+	7	1267	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	334						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AGTGGAAAGTCTTTTTGCTGA	0.343000														70			16		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31894754	31894754	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:31894754G>A	uc002wyw.1	+	14	1517	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	452						extracellular space	lipid binding										CATTGGTGAAGGCCTTGGGAT	0.577000														55			34		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247564	50247564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50247564G>A	uc002ppm.3	-	7	1296	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	429							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGAGAGTTCTGAAATTGCCGC	0.617000														26			27		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506274	1506274	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1506274C>T	uc010xgq.1	-	12	1505	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.E155K|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.E386K	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	386	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCGGGTCTCCTGGGCCTGG	0.657000														50			7		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746515	47746515	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47746515G>A	uc003gxm.3	-	4	796	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	CORIN_uc011bzf.2_Missense_Mutation_p.P96S|CORIN_uc011bzg.2_Missense_Mutation_p.P168S|CORIN_uc011bzh.1_Missense_Mutation_p.P235S|CORIN_uc011bzi.1_Missense_Mutation_p.P235S|CORIN_uc003gxn.4_Missense_Mutation_p.P235S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	235	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGAAATCCGGCCAGGAGTAA	0.458000														109			48		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600170	31600170	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31600170C>T	uc003nvb.4	+	15	3969	c.3720C>T	c.(3718-3720)ccC>ccT	p.P1240P	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.P1240P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1240	4 X 57 AA type A repeats.|Poly-Arg.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGAGCGACCCCGAAGGAGGC	0.617000														49			44		0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1720551	1720551	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1720551A>C	uc001aif.3	-	9	1220	c.857T>G	c.(856-858)cTt>cGt	p.L286R	GNB1_uc009vky.3_Missense_Mutation_p.L186R	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	286					Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTACCCAGCAAGGAGGAGGCG	0.557000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			4		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47734757	47734757	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47734757A>C	uc003crq.2	-	11	1317	c.1199T>G	c.(1198-1200)gTt>gGt	p.V400G	SMARCC1_uc011bbd.1_Missense_Mutation_p.V291G	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	400					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity	p.P399P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTCCTTTAACAGGTGTATT	0.333000														17			41		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523977	23523977	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:23523977A>G	uc002zww.3	+	0	1426	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	BCR_uc002zwx.3_Missense_Mutation_p.Q277R	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	277	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGGAGTACCAGCCCTACCAG	0.657000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									45			5		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317161	30317161	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:30317161C>T	uc009xle.2	-	2	2053	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	KIAA1462_uc001iux.3_Missense_Mutation_p.G639E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G501E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	639										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCATGCTTCCTGTGAGGGC	0.502000														33			30		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097034	69097034	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69097034G>A	uc003hdw.4	-	6	709	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	191	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCCCCTCCAGGGAGCTTTTTC	0.498000														24			17		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046127	213046127	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:213046127A>C	uc001hjt.3	+	2	1189	c.991A>C	c.(991-993)Aac>Cac	p.N331H		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	331					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	p.N331fs*8(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCTGTTTAAAAACATTCCTTT	0.388000														30			11		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347006	71347006	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71347006C>T	uc011cat.2	+	3	833	c.545C>T	c.(544-546)tCc>tTc	p.S182F	MUC7_uc011cau.2_Missense_Mutation_p.S182F|MUC7_uc003hfj.3_Missense_Mutation_p.S182F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	182	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.567000														95			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829774	106829774	+	RNA	SNP	G	A	A	rs11546812		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106829774G>A	uc021ser.1	-	518		c.15129C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GGGGCTGGCGGATCCAGCTCC	0.572000														43			47		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121220504	121220504	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:121220504T>C	uc003yox.3	+	10	1490	c.1225T>C	c.(1225-1227)Ttg>Ctg	p.L409L	COL14A1_uc003yoy.3_Silent_p.L87L|COL14A1_uc010mde.1_Silent_p.L87L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	409	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L409L(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCCACAGTGTTGAAAAACTT	0.388000														13			11		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5246403	5246403	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5246403C>T	uc001ihw.2	+	2	349	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	106					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	ACTGAAAAAACTTCAACTGGA	0.398000														55			44		0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	23997594	23997594	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:23997594T>C	uc003ccs.2	+	2	669	c.350T>C	c.(349-351)gTt>gCt	p.V117A	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.V42A	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	117					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CACTATGGAGTTCATGCTTGC	0.413000														48			87		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115885713	115885713	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:115885713A>G	uc001lbb.1	-	14	3197	c.2545T>C	c.(2545-2547)Tct>Cct	p.S849P	C10orf118_uc009xyd.1_Intron|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.S849P	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	849										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTTCCAAAGAGAGCTCCAAT	0.378000														24			18		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370395	25370395	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25370395G>A	uc001upr.3	+	10	1402	c.1361G>A	c.(1360-1362)aGg>aAg	p.R454K	RNF17_uc010tdd.1_Missense_Mutation_p.R313K|RNF17_uc010tde.2_Missense_Mutation_p.R454K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R393K|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	454					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTTGCAATAGGAGTTCACAC	0.323000														32			42		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26291192	26291192	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26291192A>G	uc003abz.1	+	27	4863	c.4613A>G	c.(4612-4614)cAa>cGa	p.Q1538R	MYO18B_uc003aca.1_Missense_Mutation_p.Q1419R|MYO18B_uc010guy.1_Missense_Mutation_p.Q1420R|MYO18B_uc010guz.1_Missense_Mutation_p.Q1418R|MYO18B_uc011aka.1_Missense_Mutation_p.Q692R|MYO18B_uc011akb.1_Missense_Mutation_p.Q1051R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1538	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGTCTGCAGCAATGCGAGGAG	0.542000														15			8		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611691	50611691	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50611691A>G	uc003tpg.4	-	1	294	c.93T>C	c.(91-93)ccT>ccC	p.P31P	DDC_uc022ade.1_Silent_p.P31P|DDC_uc003tpf.4_Silent_p.P31P|DDC_uc022adb.1_Silent_p.P31P|DDC_uc022adc.1_Silent_p.P31P|DDC_uc022add.1_Silent_p.P31P|DDC_uc022adf.1_Silent_p.P31P	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	31					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCTCCACGTCAGGGTAGACCT	0.562000														200			37		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424132	125424132	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125424132C>T	uc022bmz.1	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGCTTATCATCCTGGCCATCC	0.488000														36			15		0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262918	232262918	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:232262918C>T	uc002vrs.3	+	1	668	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	163					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GAGCGGCAGTCCGCGGGTGGG	0.701000														16			6		0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763337	56763337	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:56763337A>T	uc003dih.2	-	12	1748	c.1638T>A	c.(1636-1638)tcT>tcA	p.S546S	ARHGEF3_uc011bew.1_Silent_p.S514S|ARHGEF3_uc011bev.1_Silent_p.S485S|ARHGEF3_uc003dif.2_Silent_p.S520S|ARHGEF3_uc003dig.2_Silent_p.S514S|ARHGEF3_uc010hmy.1_Silent_p.S312S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	514					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTCCACAGGAAGAGTCTGTCT	0.507000														34			5		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117075	7117075	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7117075G>A	uc002mgd.1	-	21	4250	c.4141C>T	c.(4141-4143)Cct>Tct	p.P1381S	INSR_uc002mge.1_Missense_Mutation_p.P1369S	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1381					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTTAGGAAGGATTGGACCGA	0.552000														60			53		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271967	22271967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22271967C>T	uc010ecx.3	+	3	1584	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	ZNF257_uc010ecy.3_Missense_Mutation_p.S440L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCAGTCTTCACACCTTACT	0.403000														27			18		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290946	132290946	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132290946G>A	uc002tta.3	+	7	1164	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	CCDC74A_uc002ttb.3_Missense_Mutation_p.R305Q|CCDC74A_uc021vpq.1_3'UTR|CCDC74A_uc021vpr.1_Missense_Mutation_p.R368Q	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	371										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGCAGAAACGGCGCCTGCAT	0.597000														23			6		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506663	37506663	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:37506663G>A	uc021ppc.1	+	32	3055	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D986N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1042						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D986Y(2)		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						AAGAAATGCCGATATATTAAA	0.308000														17			11		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434619	79434619	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:79434619T>G	uc003hlb.2	+	64	10527	c.10087T>G	c.(10087-10089)Tta>Gta	p.L3363V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3358					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTGCACAACTTACATTTTCT	0.473000														112			4		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50107964	50107964	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50107964A>G	uc003cyc.3	+	18	3343	c.3095A>G	c.(3094-3096)aAg>aGg	p.K1032R	RBM6_uc003cyd.3_Missense_Mutation_p.K510R|RBM6_uc011bdi.2_Missense_Mutation_p.K374R|RBM6_uc003cye.3_Missense_Mutation_p.K510R|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	1032					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAACGGATTAAGTACTCCAGG	0.458000														79			10		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246126	47246126	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47246126G>A	uc002ion.2	+	9	1418	c.1359G>A	c.(1357-1359)agG>agA	p.R453R	B4GALNT2_uc010wlt.1_Silent_p.R367R|B4GALNT2_uc010wlu.1_Silent_p.R393R	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	453					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTCACAAGAGGATGGGATTTT	0.562000														9			14		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24445666	24445666	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24445666A>G	uc002zzi.1	+	6	767	c.640A>G	c.(640-642)Aga>Gga	p.R214G	CABIN1_uc021wnc.1_Missense_Mutation_p.R214G|CABIN1_uc002zzj.1_Missense_Mutation_p.R214G|CABIN1_uc002zzl.2_Missense_Mutation_p.R214G|CABIN1_uc010guk.1_Missense_Mutation_p.R169G|CABIN1_uc002zzk.2_Missense_Mutation_p.R169G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	214					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGACTCTCTCAGAATGTTCCT	0.522000														70			26		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201292181	201292181	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201292181A>C	uc001gwd.3	+	9	1858	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	PKP1_uc001gwe.3_Missense_Mutation_p.N515T|PKP1_uc009wzm.3_Missense_Mutation_p.N123T	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	536					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GAAGAGACCAACCCCAAGGGC	0.567000														130			22		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563719	8563719	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8563719C>T	uc002mkd.3	-	1	1036	c.973G>A	c.(973-975)Gag>Aag	p.E325K		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	373	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCGCCCAGCTCGGGCTGCGGG	0.687000														5			3		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211523352	211523353	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:211523352_211523353GG>AT	uc010fur.3	+	31	3796_3797	c.3714_3715GG>AT	c.(3712-3717)aaggct>aaATct	p.A1239S	CPS1_uc002vee.4_Missense_Mutation_p.A1233S|CPS1_uc010fus.3_Missense_Mutation_p.A782S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1233	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGATTGCAAAGGCTTTTGCCAT	0.411000														12			18		0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79929780	79929780	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79929780A>G	uc003kgy.1	-	4	893	c.401T>C	c.(400-402)cTa>cCa	p.L134P	DHFR_uc011ctl.2_Intron|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	134	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTCACAAATAGTTTAAGATG	0.328000														17			19		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33462066	33462066	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33462066A>C	uc003jhy.3	+	14	1980	c.1685A>C	c.(1684-1686)cAg>cCg	p.Q562P	TARS_uc010iup.1_Missense_Mutation_p.Q503P|TARS_uc011coc.2_Missense_Mutation_p.Q583P|TARS_uc003jhz.3_Missense_Mutation_p.Q458P|TARS_uc011cod.2_Missense_Mutation_p.Q441P	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	562					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCAACCATCCAGCTGGATTTC	0.388000														61			5		0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988775	176988775	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:176988775A>G	uc010zex.2	+	1	1015	c.931A>G	c.(931-933)Acc>Gcc	p.T311A		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	311						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CATGTACCTCACCCGGGACCG	0.507000														105			7		0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247202738	247202738	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247202738T>G	uc001icd.2	-	1	322	c.105A>C	c.(103-105)gaA>gaC	p.E35D	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.E35D	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCCTGAAGATTTCTTGCATCA	0.453000														67			29		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37336636	37336636	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:37336636A>G	uc003onq.4	+	2	810	c.617A>G	c.(616-618)aAg>aGg	p.K206R	RNF8_uc003onr.4_Missense_Mutation_p.K206R|RNF8_uc011dtx.2_Missense_Mutation_p.K138R	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	206					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTGGATCCTAAGTTGACTGCC	0.468000														57			16		0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305469	48305469	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48305469C>T	uc002php.2	-	1	939	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	267	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGAATCGGGCCTATAATtggg	0.657000														20			16		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726864	46726864	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46726864A>G	uc001nde.2	+	4	1895	c.1614A>G	c.(1612-1614)gaA>gaG	p.E538E	ZNF408_uc010rgw.2_Silent_p.E530E	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTGCCTGAACTGCGGCGCC	0.677000														48			5		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943722	1943722	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:1943722C>T	uc001qjt.2	+	4	1754	c.948C>T	c.(946-948)gtC>gtT	p.V316V	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.V316V|LRTM2_uc010sdx.1_Silent_p.V316V|LRTM2_uc001qjv.2_Silent_p.V78V	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	316						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TTGCAGGGGTCGTGTGCGGCG	0.662000														0			80		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080095	70080095	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70080095G>A	uc003heh.3	-	0	355	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	116					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AATTCCCACAGGATTTCTTGT	0.294000														21			19		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47282031	47282031	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47282031A>G	uc002pfs.3	-	4	1579	c.959T>C	c.(958-960)gTa>gCa	p.V320A	SLC1A5_uc010xyh.2_Missense_Mutation_p.V118A|SLC1A5_uc002pfq.3_Missense_Mutation_p.V144A|SLC1A5_uc002pfr.3_Missense_Mutation_p.V92A	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	320					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GAGGGGCAGTACCAGGAGCCC	0.592000														86			11		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864057	189864057	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:189864057G>A	uc002uqj.1	+	29	2186	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	690	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATTGGCAGGGGCCCCAGGA	0.478000														6			4		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183396934	183396934	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183396934A>C	uc003flv.3	+	7	1958	c.1663A>C	c.(1663-1665)Aat>Cat	p.N555H	KLHL24_uc003flw.3_Missense_Mutation_p.N555H	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	555						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAGACGGGAAAATGGAGAAGC	0.408000														176			6		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090581	114090581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:114090581G>A	uc011lwp.2	-	0	133	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCAAAATAAGAGTGCTGTTG	0.418000														45			42		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250683	43250683	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43250683G>A	uc003ouq.1	+	13	2484	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	TTBK1_uc021yzs.1_Silent_p.E23E	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	735	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			aggaggaagaggaggaggagg	0.577000														17			15		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36367568	36367568	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36367568A>C	uc001bzl.3	+	9	1373	c.1160A>C	c.(1159-1161)aAc>aCc	p.N387T	EIF2C1_uc001bzk.3_Missense_Mutation_p.N312T|EIF2C1_uc009vuy.3_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	387					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTACAACTTAGATCCC	0.532000														81			4		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68265234	68265234	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68265234A>C	uc001xka.2	-	10	1884	c.1745T>G	c.(1744-1746)cTt>cGt	p.L582R	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.L582R|ZFYVE26_uc010tta.2_Missense_Mutation_p.L582R	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	582					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGTGATGAGAAGCAATGAGAA	0.502000														53			16		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396065	77396065	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:77396065G>A	uc002ffc.4	-	6	1572	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.H81Y|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	385	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAGATGGCATGATCATGTCTC	0.408000														1			18		0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77919711	77919711	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77919711G>A	uc001xtt.2	-	3	544	c.127C>T	c.(127-129)Cga>Tga	p.R43*	C14orf133_uc001xtu.2_Nonsense_Mutation_p.R43*|C14orf133_uc001xtv.2_Nonsense_Mutation_p.R43*|C14orf133_uc021rwu.1_Nonsense_Mutation_p.R43*|C14orf133_uc010tvj.2_Nonsense_Mutation_p.R43*	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	43					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACGAAGTCTCGGAGGCTGTTC	0.532000														219			205		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408196	197408196	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197408196T>C	uc003fyc.2	-	15	2417	c.2234A>G	c.(2233-2235)tAc>tGc	p.Y745C	KIAA0226_uc003fyd.3_Missense_Mutation_p.Y700C|KIAA0226_uc003fye.1_Missense_Mutation_p.Y477C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	745					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTGGCAGAAGTACTTGCCCAG	0.527000														178			21		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46331546	46331546	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46331546G>A	uc021qil.1	+	3	958	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CREB3L1_uc021qik.1_Missense_Mutation_p.G175R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	175					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TCAGGCCCCGGGAGAGATGAC	0.592000			T	FUS	myxofibrosarcoma									4			8		0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150598177	150598177	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150598177G>A	uc009wly.3	-	2	512	c.360C>T	c.(358-360)atC>atT	p.I120I	ENSA_uc001evd.3_Silent_p.I113I|ENSA_uc001eve.3_Silent_p.I97I|ENSA_uc001evg.3_Silent_p.I113I|ENSA_uc001evh.3_Silent_p.I97I|ENSA_uc009wlz.1_Silent_p.I120I|ENSA_uc001evb.3_Silent_p.I109I|ENSA_uc001evc.3_Silent_p.I93I|ENSA_uc001evf.3_Silent_p.I93I	NM_207043	NP_997051	O43768	ENSA_HUMAN	Homo sapiens endosulfine alpha (ENSA), transcript variant 2, mRNA.	97					G2/M transition of mitotic cell cycle|cell division|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGGTGGGGATGTGATCAC	0.562000														24			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481673	179481673	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179481673C>T	uc021vsy.1	-	204	40464	c.40239G>A	c.(40237-40239)acG>acA	p.T13413T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T7108T|TTN_uc021vta.1_Silent_p.T7041T|TTN_uc021vtb.1_Silent_p.T6916T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14340	Ig-like 90.						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)			GAACCAGGATCGTGATAGGAT	0.413000														76			29		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058545	133058545	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:133058545G>A	uc001lkp.3	-	3	919	c.833C>T	c.(832-834)cCc>cTc	p.P278L	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	278										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CGTCCGGAGGGGTATTTTGAT	0.692000														2			14		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230721	75230721	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75230721C>T	uc001xqj.4	+	0	653	c.529C>T	c.(529-531)Ccg>Tcg	p.P177S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	24	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTACTACCCCCCGACCTCATC	0.632000														19			34		0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111196329	111196329	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111196329C>T	uc003puk.1	+	0	343	c.21C>T	c.(19-21)ttC>ttT	p.F7F	AMD1_uc011eay.1_Intron|AMD1_uc003pul.1_5'UTR|AMD1_uc011eaz.1_Silent_p.F7F|AMD1_uc011eba.1_Silent_p.F7F	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	7					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CACATTTTTTCGAAGGGACCG	0.562000														0			11		0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504295	70504295	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:70504295A>C	uc002sgn.4	+	5	1355	c.1289A>C	c.(1288-1290)aAg>aCg	p.K430T	PCYOX1_uc010fdo.3_Missense_Mutation_p.K353T|PCYOX1_uc010yqu.2_Missense_Mutation_p.K412T	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	430					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TATGCTGTGAAGAAGCCATGG	0.408000														55			7		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419752	105419752	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105419752T>C	uc010axc.1	-	6	2156	c.2036A>G	c.(2035-2037)aAg>aGg	p.K679R	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K579R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	679						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTGAACTTGGGCATTTT	0.498000														266			8		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66291292	66291292	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66291292T>A	uc001oii.1	+	10	1238	c.1160T>A	c.(1159-1161)cTg>cAg	p.L387Q	BBS1_uc001oil.1_Intron|BBS1_uc010rpg.1_Missense_Mutation_p.L253Q|BBS1_uc001oij.1_Missense_Mutation_p.L350Q|BBS1_uc001oik.1_Missense_Mutation_p.L274Q|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.L18Q	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	350					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ATGGCTGGGCTGGCCAATGGA	0.617000									Bardet-Biedl syndrome					50			9		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756381	32756381	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32756381C>T	uc003amj.3	+	1	721	c.516C>T	c.(514-516)tcC>tcT	p.S172S	RFPL3_uc010gwn.3_Silent_p.S143S|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	172	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCCTGGGCTCCCCTCGCTTTA	0.562000														82			52		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101767213	101767213	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101767213G>A	uc001tia.1	+	52	7069	c.6913G>A	c.(6913-6915)Gaa>Aaa	p.E2305K		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2305					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTCCACCTTGGAAATGATCGC	0.443000														3			28		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258184	56258184	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56258184G>A	uc001nix.1	-	0	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F221F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAATAGCAGGGAAAATGTAAA	0.408000														41			29		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207498095	207498095	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207498095A>G	uc001hfq.4	+	3	772	c.478_splice	c.e3+1	p.K160_splice	CD55_uc001hfr.4_Splice_Site_p.K160_splice|CD55_uc010psf.2_Splice_Site|CD55_uc009xcf.3_Intron|CD55_uc009xce.3_Splice_Site_p.K160_splice	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	160	Sushi 2.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ATTTTGTAAAAGTGAGTAAAA	0.348000														45			11		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931961	155931961	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155931961A>G	uc001fmu.2	-	13	1541	c.1286T>C	c.(1285-1287)cTg>cCg	p.L429P	ARHGEF2_uc001fmr.2_Missense_Mutation_p.L357P|ARHGEF2_uc001fms.2_Missense_Mutation_p.L384P|ARHGEF2_uc001fmt.2_Missense_Mutation_p.L385P|ARHGEF2_uc010pgt.1_Missense_Mutation_p.L358P|ARHGEF2_uc010pgu.1_Missense_Mutation_p.L430P	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	385	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTCACCAGCAGGATGCACTC	0.637000														101			5		0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409368	47409368	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:47409368G>A	uc010acr.3	-	3	1709	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	HTR2A_uc001vbr.3_Silent_p.F256F	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	340					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGTTTGTGATGAAGAAAGGGC	0.498000														36			46		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719805	41719805	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41719805G>A	uc002yyq.1	-	5	1454	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	334	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACGCTGCAGGACAAGGAAA	0.498000														62			14		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043083	20043083	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20043083C>T	uc002dgu.1	-	1	1198	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	GPR139_uc010vaw.1_Missense_Mutation_p.G253R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	346						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATAGGTTTTCCATTTTTGTCA	0.458000														46			48		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976637	4976637	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4976637C>T	uc010qyt.2	-	0	307	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.448000														88			4		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955113	104955113	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:104955113G>A	uc003yls.3	+	11	2235	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R887Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R679Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R679Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R726Q|RIMS2_uc003ylt.3_Missense_Mutation_p.R272Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	949					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATATGCCACGAAGACAGCTC	0.393000										HNSCC(12;0.0054)				33			15		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62021645	62021645	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:62021645C>T	uc001jky.3	-	6	1108	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	ANK3_uc010qih.2_Missense_Mutation_p.R240Q|ANK3_uc001jkz.4_Missense_Mutation_p.R251Q|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	257					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGCAGCCGCTCGGTTTAACAG	0.428000														20			26		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707193	19707193	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:19707193A>C	uc002zpv.2	+	2	248	c.123A>C	c.(121-123)aaA>aaC	p.K41N	SEPT5_uc002zpw.1_Missense_Mutation_p.K50N|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	41					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGTGAAGAAAGGCTTTGACT	0.612000														43			7		0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130578255	130578255	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130578255T>C	uc004bsj.4	-	13	2232	c.1819A>G	c.(1819-1821)Act>Gct	p.T607A	ENG_uc011mam.2_Missense_Mutation_p.T418A|ENG_uc004bsk.4_Missense_Mutation_p.T607A|AK057719_uc004bsl.1_5'Flank	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	607					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AGTGCAGCAGTGAGCAGGGCC	0.652000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					17			5		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49720046	49720046	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49720046C>T	uc010hkw.1	+	18	2160	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	APEH_uc003cxf.3_Missense_Mutation_p.S587F	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	587					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.S587F(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGGGTGGTTCCCATGGTGGC	0.572000														51			63		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523743	95523743	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95523743G>A	uc003ygo.2	-	12	3131	c.3060C>T	c.(3058-3060)ctC>ctT	p.L1020L	KIAA1429_uc003ygp.3_Silent_p.L1020L|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1020					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACCTCTCAGGAGTTCCGTTA	0.473000														35			43		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870222	140870222	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140870222T>G	uc003lla.2	+	0	1415	c.1415T>G	c.(1414-1416)cTt>cGt	p.L472R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.L472R	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	472	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGCTCCCTTCTTTGCACT	0.542000														92			75		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933502	94933502	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94933502C>T	uc001ydf.3	-	2	1061	c.900G>A	c.(898-900)ctG>ctA	p.L300L	SERPINA9_uc001yde.3_Silent_p.L200L|SERPINA9_uc010avc.3_Silent_p.L151L|SERPINA9_uc001ydg.3_Silent_p.L264L|SERPINA9_uc001ydh.1_Silent_p.L300L|SERPINA9_uc001ydi.1_Silent_p.L264L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	282					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGGCCTGTTCCAGTTGCCTCA	0.552000														42			40		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47544311	47544311	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47544311C>T	uc002pfw.3	+	9	1341	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	NPAS1_uc002pfy.3_Missense_Mutation_p.S382F|NPAS1_uc010xyj.2_Silent_p.V190V	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	382	PAC.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TGGCTGCAGTCTGTGGCCACA	0.662000														9			10		0	0	1	0	0
RBM3	5935	broad.mit.edu	37	X	48433611	48433611	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48433611T>C	uc004dkf.2	+	1	277	c.43T>C	c.(43-45)Ttt>Ctt	p.F15L		NM_006743	NP_006734	P98179	RBM3_HUMAN	Homo sapiens RNA binding motif (RNP1, RRM) protein 3 (RBM3), mRNA.	15	RRM.				positive regulation of translation	dendrite|nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AGGGCTCAACTTTAACACCGA	0.512000											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			7		0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912484	34912484	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:34912484C>T	uc002nvj.3	+	5	891	c.858C>T	c.(856-858)ctC>ctT	p.L286L		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	286						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCACCGAGCTCCCAGCCTGCA	0.512000														108			107		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457658	107457658	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107457658C>T	uc011lvs.2	+	0	956	c.956C>T	c.(955-957)cCc>cTc	p.P319L		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATGTTAAATCCCATCATCTAT	0.393000														40			19		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3656630	3656630	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3656630T>G	uc002cvp.2	-	2	1232	c.605A>C	c.(604-606)aAa>aCa	p.K202T	SLX4_uc002cvq.1_Missense_Mutation_p.K202T	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	202	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGTGCGGGGTTTGGAGGGACT	0.542000								Direct reversal of damage						149			13		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258391	9258391	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9258391A>C	uc002knv.3	+	8	5390	c.5126A>C	c.(5125-5127)aAa>aCa	p.K1709T	ANKRD12_uc002knw.3_Missense_Mutation_p.K1686T|ANKRD12_uc002knx.3_Missense_Mutation_p.K1686T|ANKRD12_uc010dkx.1_Missense_Mutation_p.K1416T	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1709						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAATGCATAAATATGGTCAG	0.338000														35			3		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719368	42719368	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:42719368G>T	uc021xxv.1	+	9	1917	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	GHR_uc003jmt.3_Missense_Mutation_p.G587C|GHR_uc003jmu.3_Missense_Mutation_p.G587C|GHR_uc003jmv.2_Missense_Mutation_p.G587C|GHR_uc021xxw.1_Missense_Mutation_p.G587C|GHR_uc021xxx.1_Missense_Mutation_p.G587C|GHR_uc021xxy.1_Missense_Mutation_p.G587C|GHR_uc021xxz.1_Missense_Mutation_p.G587C|GHR_uc021xya.1_Missense_Mutation_p.G587C|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.G400C|GHR_uc021xyd.1_Missense_Mutation_p.G565C	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	587					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACATGTTCCAGGTTCTGAGAT	0.502000														54			11		3.86212e-05	3.86769e-05	1	1	0
SLC22A25	387601	broad.mit.edu	37	11	62996904	62996904	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62996904C>T	uc001nwr.1	-	0	221	c.221G>A	c.(220-222)aGa>aAa	p.R74K	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R74K	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	74					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GATGGAGATTCTCAGGAGGGC	0.517000														51			48		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622514	156622515	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156622514_156622515CC>AT	uc001fpp.3	+	7	2108_2109	c.1772_1773CC>AT	c.(1771-1773)gcc>gAT	p.A591D	BCAN_uc001fpo.3_Missense_Mutation_p.A591D	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	591					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCGAGGGTGCCCCTTCCCTGC	0.629000														23			28		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595031	44595031	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44595031G>A	uc001clp.3	+	1	146	c.88G>A	c.(88-90)Gag>Aag	p.E30K	KLF17_uc009vxf.1_5'UTR	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	30					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGGATAACGAGAACTCAGC	0.488000														102			54		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50379737	50379737	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:50379737G>A	uc001nhe.2	+	5		c.1220G>A			LOC646813_uc001nhf.1_Intron|LOC646813_uc001nhg.1_Intron|LOC646813_uc001nhh.1_Intron|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TTATATATGGGAAGCCATCAG	0.398000														9			4		0	0	1	0	0
FAM206A	54942	broad.mit.edu	37	9	111698619	111698619	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:111698619C>T	uc004bdn.3	+	2	257	c.163C>T	c.(163-165)Cca>Tca	p.P55S	IKBKAP_uc004bdm.4_5'Flank|IKBKAP_uc011lwc.2_5'Flank|IKBKAP_uc010mtq.3_5'Flank|FAM206A_uc010mtr.3_Intron	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	Homo sapiens family with sequence similarity 206, member A (FAM206A), mRNA.	55					glycine catabolic process	glycine cleavage complex											AGAATCTCATCCAGTTCTTCA	0.383000														46			15		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131833595	131833595	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131833595C>T	uc003ytd.4	-	12	3003	c.2747G>A	c.(2746-2748)gGa>gAa	p.G916E	ADCY8_uc010mds.3_Missense_Mutation_p.G785E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	916					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.H915H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TACCTGCTGTCCATGGTAGAA	0.453000										HNSCC(32;0.087)				18			20		0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74721318	74721318	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:74721318G>A	uc011csu.2	-	4	885	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	COL4A3BP_uc003kds.3_Missense_Mutation_p.H155Y|COL4A3BP_uc003kdt.3_Missense_Mutation_p.H283Y|COL4A3BP_uc003kdu.2_Missense_Mutation_p.H155Y	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	155					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CGTAAACTGTGGCCTTTCTGC	0.388000														23			18		0	0	1	0	0
COPG2	26958	broad.mit.edu	37	7	130295935	130295935	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:130295935A>G	uc003vqh.1	-	8	716	c.626T>C	c.(625-627)cTt>cCt	p.L209P		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	209					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GGAAACAGCAAGTCGATCATT	0.373000														43			5		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273215	125273215	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125273215C>T	uc011lyv.2	+	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I	OR1J2_uc004bmj.2_Silent_p.I45I	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACCTGCTCATCATGCTGCTCA	0.572000														49			104		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792954	31792954	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:31792954C>T	uc001wrf.4	-	23	3789	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N	HEATR5A_uc010ami.3_Missense_Mutation_p.D807N|HEATR5A_uc001wrg.1_Missense_Mutation_p.D791N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1196							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGGCATCATCCCCTTTATCT	0.398000														18			31		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123257740	123257740	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123257740G>A	uc003vku.1	+	6	692	c.400G>A	c.(400-402)Gga>Aga	p.G134R	ASB15_uc003vkv.1_Missense_Mutation_p.G134R|ASB15_uc003vkw.1_Missense_Mutation_p.G134R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	134					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTAGAAAAGGGAGTGTGGCC	0.383000														29			25		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196762413	196762413	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196762413G>A	uc002utj.4	-	28	4726	c.4625C>T	c.(4624-4626)tCc>tTc	p.S1542F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1542					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TAAATCATGGGATAAAAATTT	0.289000														15			23		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	611069	611069	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:611069A>G	uc001lqe.3	+	16	4924	c.4793A>G	c.(4792-4794)aAg>aGg	p.K1598R	PHRF1_uc010qwc.2_Missense_Mutation_p.K1597R|PHRF1_uc010qwd.2_Missense_Mutation_p.K1596R|PHRF1_uc010qwe.2_Missense_Mutation_p.K1594R|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1598							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ATCCTGCGCAAGGCCGTGCAG	0.627000														18			4		0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139929414G>A	uc004ckp.1	+	2	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632000														32			56		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868880	51868880	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:51868880G>A	uc001rys.1	+	15	2240	c.2062G>A	c.(2062-2064)Gga>Aga	p.G688R	SLC4A8_uc001rym.3_Missense_Mutation_p.G635R|SLC4A8_uc001ryn.3_Missense_Mutation_p.G635R|SLC4A8_uc001ryo.2_Missense_Mutation_p.G635R|SLC4A8_uc010snj.2_Missense_Mutation_p.G715R|SLC4A8_uc001ryr.3_Missense_Mutation_p.G688R|SLC4A8_uc010snk.2_Missense_Mutation_p.G635R	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	688					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CGGCCATCATGGACCCTACAC	0.468000														1			37		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111119431	111119431	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111119431C>T	uc001vqx.3	+	26	2372	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	695	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCAGGACCCCCAGGCCCCAC	0.592000														71			21		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982235	118982235	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:118982235C>T	uc004bjn.3	+	4	2319	c.1938C>T	c.(1936-1938)tcC>tcT	p.S646S	PAPPA_uc011lxp.1_Silent_p.S341S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	646					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						GTACGGACTCCTTCACGCCCA	0.607000														36			71		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903314	2903314	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2903314G>A	uc002cry.1	-	5	800	c.734C>T	c.(733-735)cCc>cTc	p.P245L		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	245	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G244D(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCACATGAGGGGGCCCCCGGA	0.706000														8			10		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390825	100390825	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:100390825C>T	uc003pqh.1	-	4	902	c.587_splice	c.e4+1	p.W196_splice	MCHR2_uc003pqi.1_Splice_Site_p.W196_splice	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	196						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACAACTTACCAGAGTACATC	0.408000														21			28		0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759345	94759345	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:94759345T>A	uc010ruf.1	+	0	924	c.624T>A	c.(622-624)acT>acA	p.T208T		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.	208	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AGCCCAAAACTTGGTACGTGG	0.572000														31			22		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206243250	206243250	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206243250T>C	uc001hdt.1	-	3	651	c.12_splice	c.e3-1	p.E4_splice		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	4						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTCCATGACTCTGTTGGGAA	0.532000														50			19		0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066123	91066123	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:91066123A>G	uc009xts.3	+	1	585	c.410A>G	c.(409-411)gAg>gGg	p.E137G	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	137					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GAGAGTCCAGAGCTTGACTGT	0.453000														24			10		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498157	32498157	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32498157T>C	uc003amc.3	+	12	1848	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	SLC5A1_uc011alz.2_Missense_Mutation_p.L406P	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	533					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCATTATCCTCTTCGCCATT	0.483000														79			25		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98760956	98760956	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:98760956C>T	uc001kmw.2	-	36	4770	c.4518G>A	c.(4516-4518)agG>agA	p.R1506R		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1506	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGGTGAACTTCCTCCGCTTCA	0.652000														6			85		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29041249	29041249	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29041249A>G	uc001bra.3	+	9	1828	c.1686A>G	c.(1684-1686)caA>caG	p.Q562Q	GMEB1_uc001bqz.3_Silent_p.Q552Q|GMEB1_uc001brb.3_Silent_p.Q552Q	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCATCAAGTTCACAATG	0.418000														91			17		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126153068	126153068	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:126153068A>T	uc010hsg.1	+	13	1534	c.1475A>T	c.(1474-1476)cAc>cTc	p.H492L	CCDC37_uc003eiu.1_Missense_Mutation_p.H491L	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	491										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTGTACCGGCACTGCACCGGC	0.617000														81			5		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376194	43376194	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43376194T>C	uc002ovd.1	-	2	572	c.434A>G	c.(433-435)gAg>gGg	p.E145G	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E145G|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E145G|PSG3_uc002ovb.3_Missense_Mutation_p.E145G	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	145					defense response|female pregnancy	extracellular region		p.E145G(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTAGGAGTCTCCACTGTGCA	0.522000														159			13		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505016	70505016	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70505016C>T	uc011caq.2	-	2	1062	c.946G>A	c.(946-948)Gct>Act	p.A316T	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.A115T|UGT2A1_uc021xox.1_Missense_Mutation_p.A115T|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	106					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGTAGAAAGCCCATATTGTG	0.368000														44			4		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801935	39801935	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39801935C>T	uc021olw.1	+	0	4995	c.4995C>T	c.(4993-4995)ctC>ctT	p.L1665L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3230					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGAACTCTCAAATCTGAAA	0.398000														31			50		0	0	1	0	0
ZNF643	65243	broad.mit.edu	37	1	40928585	40928585	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40928585A>C	uc001cfn.2	+	4	1226	c.929A>C	c.(928-930)aAg>aCg	p.K310T	ZNF643_uc001cfl.2_Missense_Mutation_p.K208T|ZNF643_uc001cfm.2_Missense_Mutation_p.K176T	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TTCAGATGTAAGGAATGTGGA	0.378000														43			23		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308973	74308973	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74308973A>C	uc010wtb.1	-	8	889	c.668T>G	c.(667-669)aTt>aGt	p.I223S	PRPSAP1_uc010wta.1_Missense_Mutation_p.I326S	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	297					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGACTCCTCAATCAGGCGAGG	0.483000														47			10		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150885773	150885773	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:150885773G>A	uc004fex.3	+	1	220	c.136G>A	c.(136-138)Ggt>Agt	p.G46S		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	46						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGTCCCGGGGTGCCTCCCA	0.507000														4			111		0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32097093	32097093	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32097093A>C	uc003nzr.3	-	1	735	c.465T>G	c.(463-465)acT>acG	p.T155T	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Silent_p.T155T	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	155					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GCTCCCCCCAAGTTTCCTCCC	0.592000														324			66		0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183033	39183033	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39183033C>T	uc002hvu.3	-	0	422	c.375G>A	c.(373-375)gtG>gtA	p.V125V		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	125	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGCCCTCCACACGACTGT	0.652000														17			26		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926038	31926038	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31926038T>C	uc002ecs.4	+	3	677	c.468T>C	c.(466-468)tgT>tgC	p.C156C		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	156					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTTCTTCTTGTGCCAAAAGCT	0.318000														33			4		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67727112	67727112	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:67727112T>G	uc002lkp.2	-	35	4982	c.4914A>C	c.(4912-4914)caA>caC	p.Q1638H	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.Q726H|RTTN_uc010dqp.2_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1638							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGAGATGAGCTTGTCGAAAAG	0.403000														8			6		0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41250188	41250188	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41250188C>T	uc003oqf.2	-	1	415	c.351G>A	c.(349-351)caG>caA	p.Q117Q	TREM1_uc003oqg.2_Silent_p.Q117Q|TREM1_uc021yzj.1_Silent_p.Q117Q	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	117	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CCTTGGGAGGCTGGTAGATCA	0.532000														12			16		0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75773675	75773675	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:75773675C>T	uc004ajf.1	+	2	205	c.131C>T	c.(130-132)cCa>cTa	p.P44L	ANXA1_uc004ajg.1_Missense_Mutation_p.P44L	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	44					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACCTTCAATCCATCCTCGGAT	0.443000														10			34		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64686209	64686209	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:64686209A>C	uc002anm.3	+	1	226	c.166A>C	c.(166-168)Aat>Cat	p.N56H		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	56					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CCTCCAGGGAAATGAAGGCAA	0.383000														20			5		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745578	32745578	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32745578A>G	uc001bux.3	+	10	1316	c.1178A>G	c.(1177-1179)gAg>gGg	p.E393G	LCK_uc001buy.3_Missense_Mutation_p.E393G|LCK_uc001buz.3_Missense_Mutation_p.E423G|LCK_uc010ohc.1_Missense_Mutation_p.E437G|LCK_uc001bva.3_Missense_Mutation_p.E400G	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	393	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GAGGACAACGAGTACACAGCC	0.557000			T	TRB@	T-ALL									63			15		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155454	151155454	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151155454C>T	uc011bod.2	-	5	6895	c.6895G>A	c.(6895-6897)Gaa>Aaa	p.E2299K	IGSF10_uc011bob.2_Missense_Mutation_p.E326K|IGSF10_uc011boc.2_Missense_Mutation_p.E278K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2299	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCTAATTTCCAAGGTTCCA	0.448000														6			86		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42841327	42841327	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42841327A>G	uc002otl.4	+	7	2117	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	MEGF8_uc002otm.4_Silent_p.G35G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	494						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGTGTCAGGAGCTGAGCTTG	0.577000														69			11		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70710437	70710437	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70710437A>T	uc001des.3	+	8	995	c.871A>T	c.(871-873)Agg>Tgg	p.R291W	SRSF11_uc001det.3_Missense_Mutation_p.R291W|SRSF11_uc001deu.2_Missense_Mutation_p.R291W|SRSF11_uc001dev.3_Missense_Mutation_p.R101W|SRSF11_uc001dew.3_Missense_Mutation_p.R231W	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	291	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						CAAAAGCCCAAGGCGGAGAAG	0.463000														41			21		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675980	62675980	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62675980A>G	uc021ooc.1	+	4	1969	c.1534A>G	c.(1534-1536)Agt>Ggt	p.S512G	L1TD1_uc001dae.4_Missense_Mutation_p.S512G	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	512										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AATTCCCTTTAGTTATTTGGT	0.458000														38			7		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164069	150164069	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150164069C>T	uc003whj.3	+	1	613	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	95						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCCCAGCCTCCATGCTCTGCT	0.517000														65			54		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92084075	92084075	+	Nonsense_Mutation	SNP	G	A	A	rs146758171		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92084075G>A	uc001xzs.1	-	19	2406	c.2266C>T	c.(2266-2268)Cga>Tga	p.R756*	CATSPERB_uc010aub.1_Nonsense_Mutation_p.R278*	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	756					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCAAGCATTCGAAAACCTATG	0.318000														30			12		0	0	1	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849530	102849530	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102849530C>T	uc001ksv.3	-	2	1430	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	Homo sapiens TLX1 neighbor (TLX1NB), mRNA.	45																	CCCCAGTGCTCTGCCCTCAAG	0.642000														0			6		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111693353	111693353	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:111693353G>A	uc010hqa.3	+	17	4116	c.3705G>A	c.(3703-3705)cgG>cgA	p.R1235R	PHLDB2_uc003dyc.3_Silent_p.R1219R|PHLDB2_uc003dyd.3_Silent_p.R1192R|PHLDB2_uc003dyg.3_Silent_p.R1235R|PHLDB2_uc003dyh.3_Silent_p.R1192R|PHLDB2_uc003dyi.3_Silent_p.R726R|PHLDB2_uc003dyj.3_Silent_p.R290R	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1235	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGCCATGCGGATCTGGATGG	0.453000														7			64		0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34508852	34508852	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34508852C>T	uc003ojq.2	-	2	977	c.543G>A	c.(541-543)aaG>aaA	p.K181K	SPDEF_uc011dsq.2_Silent_p.K181K	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	181	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CGCACAGCTCCTTGCCCGCCA	0.647000														11			11		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228167822	228167822	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228167822G>A	uc002vom.2	+	43	4113	c.3951G>A	c.(3949-3951)gtG>gtA	p.V1317V	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1317	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTCCAGGCGTGAAAGGTACTG	0.448000														26			15		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117907600	117907600	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:117907600C>T	uc001two.2	-	19	2681	c.2626_splice	c.e19-1	p.D876_splice		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	905	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAAGAATGTCCTAAATGAAA	0.453000														0			10		0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228197266	228197266	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228197266G>A	uc002vos.3	+	4	803	c.391G>A	c.(391-393)Gat>Aat	p.D131N	MFF_uc002vot.3_Missense_Mutation_p.D105N|MFF_uc002vow.3_Missense_Mutation_p.D105N|MFF_uc002voy.3_Missense_Mutation_p.D131N|MFF_uc021vxu.1_Missense_Mutation_p.D105N|MFF_uc002voz.3_Missense_Mutation_p.D105N	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	131						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGATTTTCTGGATTTAGAAAG	0.398000														191			97		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088521	9088521	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9088521C>T	uc002mkp.3	-	0	3498	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1098	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGGCTTGTCCTTCCTGGAG	0.433000														28			30		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274660	29274660	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29274660C>T	uc011dln.2	+	0	194	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AAGCACCTCTCTCTTCTGGAC	0.473000														169			50		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22850980	22850980	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22850980A>C	uc001yuq.2	+	10	1372	c.1242A>C	c.(1240-1242)aaA>aaC	p.K414N	TUBGCP5_uc001yur.4_Missense_Mutation_p.K414N|TUBGCP5_uc010axz.1_5'UTR	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	414					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCTGCACAAAGTGTTTAGTA	0.433000														188			19		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48772229	48772229	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:48772229C>T	uc003xqi.3	-	46	6204	c.6147G>A	c.(6145-6147)caG>caA	p.Q2049Q	PRKDC_uc003xqj.3_Silent_p.Q2049Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2050					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATGAATAGCTCTGAACTCCGG	0.428000								Non-homologous end-joining						100			28		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36364550	36364550	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36364550G>A	uc002oce.3	+	7	1129	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	APLP1_uc010xsz.2_Missense_Mutation_p.E292K|APLP1_uc002ocf.3_Missense_Mutation_p.E331K|APLP1_uc002ocg.3_Missense_Mutation_p.E234K|APLP1_uc010xta.2_Missense_Mutation_p.E325K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	331	Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.R330C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGATGCGTGAATGGGCCAT	0.562000														16			17		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3115819	3115819	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3115819T>G	uc002ctq.3	+	1	102	c.7T>G	c.(7-9)Ttc>Gtc	p.F3V	IL32_uc002ctn.3_Missense_Mutation_p.F3V|IL32_uc002ctk.3_Missense_Mutation_p.F3V|IL32_uc002cto.3_Missense_Mutation_p.F3V|IL32_uc010uwp.2_Missense_Mutation_p.F3V|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Missense_Mutation_p.F3V|IL32_uc002ctm.3_Missense_Mutation_p.F3V|IL32_uc002ctp.3_Missense_Mutation_p.F3V|IL32_uc010uwq.1_Missense_Mutation_p.F3V|IL32_uc002ctr.3_Missense_Mutation_p.F3V|IL32_uc002ctt.3_Missense_Mutation_p.F3V|IL32_uc010uwr.2_Missense_Mutation_p.F3V|IL32_uc002ctu.3_Missense_Mutation_p.F3V|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	3					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CGCCATGTGCTTCCCGAAGGT	0.572000														114			48		0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4776516	4776516	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:4776516G>A	uc002wld.3	-	3	286	c.232C>T	c.(232-234)Cga>Tga	p.R78*	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Nonsense_Mutation_p.R78*	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	78					cell cycle|signal transduction	nucleus	protein binding	p.R78*(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGAGGGGGTCGAATGCGTTCG	0.622000														62			47		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435624	104435624	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:104435624G>A	uc003kok.3	+	0		c.450G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		TCCTTAATTTGAAACAAGTGC	0.463000														14			14		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543499	178543499	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:178543499G>A	uc003fjd.3	+	2	523	c.180G>A	c.(178-180)atG>atA	p.M60I	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Missense_Mutation_p.M60I|KCNMB2_uc003fjf.3_Missense_Mutation_p.M60I|KCNMB2_uc011bqa.2_Missense_Mutation_p.M60I|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	60					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCCATCATGATGTATTTTC	0.527000														117			242		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236546	140236546	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140236546G>A	uc003lhx.2	+	0	913	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.D305N|PCDHAC2_uc011dad.2_Missense_Mutation_p.D305N	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	321	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D305N(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGTAAATGATGCTATTGA	0.383000														20			23		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045673	53045673	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:53045673C>T	uc003xqz.2	-	15	2544	c.2388G>A	c.(2386-2388)agG>agA	p.R796R	ST18_uc011ldq.1_Silent_p.R443R|ST18_uc011ldr.1_Silent_p.R761R|ST18_uc011lds.1_Silent_p.R701R|ST18_uc003xra.2_Silent_p.R796R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	796						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACCACCTTTCCTTGCACGAG	0.478000														59			43		0	0	1	0	0
EFHA1	221154	broad.mit.edu	37	13	22095462	22095462	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:22095462G>A	uc001uof.3	-	5	587	c.519C>T	c.(517-519)ccC>ccT	p.P173P		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	173	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		ATCCAGAATGGGGTTCTGCAG	0.313000														10			12		0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41399594	41399595	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41399594_41399595CC>TT	uc003xnx.3	+	7	870_871	c.660_661CC>TT	c.(658-663)gtccag>gtTTag	p.Q221*	GINS4_uc022aug.1_Non-coding_Transcript	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	221	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTGGAGCTGTCCAGCTAATTTA	0.515000														42			29		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878057	2878057	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2878057G>A	uc002lwp.1	+	3	1188	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	ZNF556_uc002lwq.3_Silent_p.E366E	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACTAGAGAGAAAGTCTATA	0.478000														20			20		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63950756	63950756	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:63950756G>A	uc002amp.3	-	47	9734	c.9586C>T	c.(9586-9588)Ctt>Ttt	p.L3196F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3196					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTGAGAGAAGAGACAGCGCT	0.478000														2			16		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128464	3128464	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3128464A>G	uc021vzx.1	-	0	1253	c.1253T>C	c.(1252-1254)tTg>tCg	p.L418S	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.L418S	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	418					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCTAGGAGGCAAAGACGCAGC	0.463000														104			17		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193314	132193314	+	Missense_Mutation	SNP	G	A	A	rs145305830		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:132193314G>A	uc003vra.4	-	1	368	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PLXNA4_uc003vrc.2_Missense_Mutation_p.P47S|PLXNA4_uc003vrb.3_Missense_Mutation_p.P47S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	47	Sema.					integral to membrane|intracellular|plasma membrane		p.P47P(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCTCGGCGGGCTCTCCTCGG	0.592000														33			28		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8457067	8457067	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8457067C>T	uc001mgi.1	-	9	2039	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	STK33_uc001mgj.1_Missense_Mutation_p.E374K|STK33_uc001mgk.1_Missense_Mutation_p.E374K|STK33_uc010rbn.1_Missense_Mutation_p.E333K|STK33_uc001mgl.3_Missense_Mutation_p.E187K|STK33_uc009yfp.3_Missense_Mutation_p.E96K	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	374	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCTAGTAGTTCCTTAGCTGTG	0.294000														6			7		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594365	195594365	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195594365T>C	uc003fvu.1	-	11	3302	c.2759A>G	c.(2758-2760)aAg>aGg	p.K920R	TNK2_uc003fvq.1_Missense_Mutation_p.K327R|TNK2_uc003fvr.1_Missense_Mutation_p.K445R|TNK2_uc003fvs.1_Missense_Mutation_p.K952R|TNK2_uc003fvt.1_Missense_Mutation_p.K998R|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	920	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GAAGTTGGCCTTGGGGTCCAA	0.741000														37			6		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127464	45127464	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:45127464C>T	uc003com.3	-	8	2312	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	726						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTCCTTTCGCCCTTTCTG	0.493000														71			98		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228364	3228364	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:3228364C>T	uc004crg.4	-	6	8037	c.7880G>A	c.(7879-7881)aGg>aAg	p.R2627K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2627	Ig-like C2-type 10.					extracellular region		p.R2627K(3)		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)				GGAGACCAGCCTCTCCGTGTG	0.602000														1			29		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75399719	75399719	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75399719G>A	uc001jur.3	-	1	422	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	19					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGAGTTCCATGATCAGCTTGC	0.502000														9			46		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504634	151504634	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:151504634G>A	uc003ilw.3	+	0	1558	c.453G>A	c.(451-453)atG>atA	p.M151I	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	151					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGTCAAGATGATCGCGGACA	0.627000														66			18		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276095	42276096	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42276095_42276096CC>TT	uc021sjp.1	-	19	2463_2464	c.2463_2464GG>AA	c.(2461-2466)aaggag>aaAAag	p.E822K	PLA2G4E_uc010udc.2_Missense_Mutation_p.E265K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E446K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	810	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TATGTCAGCTCCTTGGTGGCAT	0.535000														8			4		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720640	121720640	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121720640C>T	uc003ees.3	-	3	654	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	ILDR1_uc003eeq.3_Missense_Mutation_p.G163R|ILDR1_uc003eer.3_Missense_Mutation_p.G151R|ILDR1_uc010hrg.3_Intron	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	151	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GATGTGTCCCCTGGAGCCTCA	0.493000														54			82		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91420201	91420201	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91420201T>C	uc002bpu.1	+	4	664	c.448T>C	c.(448-450)Tcc>Ccc	p.S150P		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	150					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATTGTGGTCTCCATTCTGGA	0.602000														119			16		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663617	117663617	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117663617G>A	uc003pxp.1	-	27	4814	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1539	Fibronectin type-III 6.				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)		TGTTCCAAAGGATCTGAATAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									5			15		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119229968	119229968	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:119229968C>T	uc001pwm.4	-	4	1329	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	USP2_uc001pwl.4_Missense_Mutation_p.R136K|USP2_uc001pwn.4_Missense_Mutation_p.R102K	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	345					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CGGTGCGTATCTCTGGATCTG	0.493000														2			14		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373255	5373255	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5373255C>T	uc010qzb.2	+	0	518	c.518C>T	c.(517-519)tCc>tTc	p.S173F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTACTCTCCCATGCTTTC	0.463000														34			14		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640067	207640067	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207640067C>T	uc001hfw.3	+	1	374	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CR2_uc001hfv.3_Silent_p.F85F|CR2_uc009xch.3_Silent_p.F85F	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	85					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGAATATTTCAATAAATATT	0.408000														47			34		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689235	43689235	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43689235G>A	uc002ovu.3	-	1	260	c.129C>T	c.(127-129)ccC>ccT	p.P43P	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.P43P	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	43	Ig-like V-type.				female pregnancy	extracellular region		p.P43P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CGGAAACTTTGGGTGGCAGGG	0.473000														127			81		0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101993115	101993115	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:101993115T>C	uc001kqq.1	-	13	1573	c.1486A>G	c.(1486-1488)Agt>Ggt	p.S496G	CWF19L1_uc001kqs.1_Missense_Mutation_p.S248G|CWF19L1_uc001kqr.1_Missense_Mutation_p.S456G|CWF19L1_uc001kqt.1_Missense_Mutation_p.S200G|CWF19L1_uc010qpn.1_Missense_Mutation_p.S359G	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA.	496							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ATGGCTTCACTGGCCAGGACC	0.498000														22			17		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	860467	860467	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:860467C>T	uc002wei.3	-	5	1079	c.976G>A	c.(976-978)Gga>Aga	p.G326R	ANGPT4_uc010zpn.2_Missense_Mutation_p.G320R	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	326	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CACCTGCCTCCACTGCTCTGC	0.607000														29			11		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053843	133053843	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133053843G>A	uc003ytg.2	-	2	225	c.225C>T	c.(223-225)ccC>ccT	p.P75P	OC90_uc011lix.1_Silent_p.P91P	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	91					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAAGTCTCGGGGGCAGAGAC	0.537000														12			25		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46880850	46880850	+	Missense_Mutation	SNP	T	G	G	rs140715783		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46880850T>G	uc001ndn.4	-	37	5645	c.5402A>C	c.(5401-5403)aAc>aCc	p.N1801T	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.N43T	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1801					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTTGGTGTAGTTATGGTCAGG	0.527000														68			23		0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128588146	128588146	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128588146A>G	uc003voh.3	+	6	1224	c.1103A>G	c.(1102-1104)aAg>aGg	p.K368R	IRF5_uc003vog.3_Missense_Mutation_p.K384R|IRF5_uc010llt.3_Missense_Mutation_p.K282R|IRF5_uc003voi.3_Missense_Mutation_p.K368R|IRF5_uc003voj.4_Missense_Mutation_p.K368R|IRF5_uc010llw.1_3'UTR	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	368					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTCAAGACCAAGCTTTTCAGC	0.587000														107			6		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12641906	12641906	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12641906A>C	uc003bxf.4	-	7	1258	c.843T>G	c.(841-843)atT>atG	p.I281M	RAF1_uc011aut.2_Missense_Mutation_p.I66M|RAF1_uc011auu.2_Missense_Mutation_p.I199M	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	281					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTGACTTCGAATTGCATCCT	0.413000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					57			6		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058063	140058063	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140058063C>T	uc004clk.3	+	16	2716	c.2386C>T	c.(2386-2388)Cag>Tag	p.Q796*	GRIN1_uc004cli.1_Nonsense_Mutation_p.Q471*|GRIN1_uc004clj.1_Nonsense_Mutation_p.Q793*|GRIN1_uc004cln.3_Nonsense_Mutation_p.Q817*|GRIN1_uc004clo.3_Nonsense_Mutation_p.Q817*|GRIN1_uc004clm.3_Nonsense_Mutation_p.Q796*|GRIN1_uc004cll.3_Nonsense_Mutation_p.Q796*	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	796					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTTCGGTATCAGGAATGTGA	0.607000														38			12		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994147	140994147	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:140994147C>T	uc004fbt.3	+	3	1281	c.957C>T	c.(955-957)ttC>ttT	p.F319F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	319							protein binding	p.L318R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.478000										HNSCC(15;0.026)				161			9		0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125816168	125816168	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:125816168C>T	uc011cwt.2	+	6	884	c.648C>T	c.(646-648)ctC>ctT	p.L216L	GRAMD3_uc003ktu.3_Silent_p.L201L|GRAMD3_uc011cwv.2_Silent_p.L209L|GRAMD3_uc011cww.2_Silent_p.L97L|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Silent_p.L92L|GRAMD3_uc011cwz.2_Silent_p.L185L|GRAMD3_uc011cwu.1_Silent_p.L185L	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	201										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TCTCCTTACTCTCCAGAGATT	0.363000														11			5		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165022	98165022	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:98165022T>G	uc001drv.3	-	5	702	c.565A>C	c.(565-567)Aag>Cag	p.K189Q	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	189					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.K189N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAGCAATCTTTGCAGAATAG	0.418000														100			90		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134767	76134767	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76134767T>C	uc002jup.2	+	13	2159	c.1777T>C	c.(1777-1779)Tac>Cac	p.Y593H	TMC8_uc002juq.2_Missense_Mutation_p.Y370H|TMC8_uc002jur.1_Silent_p.T42T	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	593						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGCCCTCCACTACCTGGGCTC	0.672000														46			19		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53277896	53277896	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:53277896C>T	uc001vhf.2	-	6	950	c.839G>A	c.(838-840)gGa>gAa	p.G280E	LECT1_uc001vhg.2_Missense_Mutation_p.G279E|LECT1_uc001vhh.2_Missense_Mutation_p.G269E	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	280					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		p.G280E(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ACAACAGATTCCTTCGTGATC	0.458000														62			23		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298217	62298217	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62298217C>T	uc001ntl.3	-	4	3972	c.3672G>A	c.(3670-3672)atG>atA	p.M1224I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1224					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)				CTGGCACTTTCATTTCACCTT	0.498000														377			110		0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17726866	17726866	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:17726866T>G	uc001ipj.2	+	3	452	c.237T>G	c.(235-237)atT>atG	p.I79M	STAM_uc010qcf.2_Intron	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	79	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTGGCAAAATTTTTCATTTAG	0.343000														50			3		0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130496741	130496741	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130496741T>G	uc004brs.4	-	1	333	c.254A>C	c.(253-255)aAg>aCg	p.K85T	TOR2A_uc022bnq.1_Intron|TOR2A_uc004bru.4_Intron|TOR2A_uc004brv.4_Intron|TOR2A_uc011maj.2_Intron|TOR2A_uc004brt.4_Missense_Mutation_p.K85T|TOR2A_uc004brw.4_Missense_Mutation_p.K85T	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA.	85					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GACCAGCGGCTTGGTGGGGGC	0.687000											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			10		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519280	48519280	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48519280A>C	uc002pht.3	+	3	517	c.339A>C	c.(337-339)aaA>aaC	p.K113N		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	113	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGCAGTGGAAATTCTGTGAAA	0.547000														102			5		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272878	28272878	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28272878G>A	uc009xky.3	-	5	811	c.713C>T	c.(712-714)cCa>cTa	p.P238L	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.P238L|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	238							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTCCACGGTGGGGCTCGACA	0.418000														44			11		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20156418	20156418	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:20156418C>T	uc003cbq.3	+	6	1534	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	363					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAAAACTCTCCCATCTGGGAT	0.393000														27			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389990	82389990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82389990G>A	uc003uhx.2	-	23	15542	c.15253C>T	c.(15253-15255)Cga>Tga	p.R5085*		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5008					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R5085*(6)		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						AGACTGAATCGAAAAGTTTCA	0.323000														37			23		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622514	30622514	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30622514A>G	uc003nqz.3	-	18	3178	c.2966T>C	c.(2965-2967)cTt>cCt	p.L989P	DHX16_uc003nqy.3_Missense_Mutation_p.L508P|DHX16_uc011dmo.2_Missense_Mutation_p.L929P	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	989					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGTCAAGACAAGTTCGTGGTA	0.532000														102			4		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44816856	44816856	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:44816856G>C	uc003cnx.4	+	2	322	c.173G>C	c.(172-174)aGt>aCt	p.S58T	KIF15_uc010hiq.3_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	58	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.T57M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCCTCCACGAGTCTCCGGCTG	0.463000														51			23		0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171339	70171339	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70171339C>T	uc001xlk.3	+	3	654	c.338C>T	c.(337-339)tCa>tTa	p.S113L	KIAA0247_uc010aqz.3_Missense_Mutation_p.S88L	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	113						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)		ACCCACACATCACTTGGGGTC	0.507000														42			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583245	82583245	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82583245G>A	uc003uhx.2	-	4	7313	c.7024C>T	c.(7024-7026)Cac>Tac	p.H2342Y	PCLO_uc003uhv.2_Missense_Mutation_p.H2342Y|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2273	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGGTGGGTGATCAAACACG	0.423000														48			52		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31613308	31613308	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:31613308T>G	uc001rkh.1	-	5	1168	c.1017A>C	c.(1015-1017)caA>caC	p.Q339H	DENND5B_uc001rki.1_Missense_Mutation_p.Q304H|DENND5B_uc001rkj.3_Missense_Mutation_p.Q326H|DENND5B_uc001rkk.1_Missense_Mutation_p.Q226H	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	304	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATCAGGCGTTGATAATCTG	0.393000														43			7		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383963	85383963	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85383963C>T	uc002ble.3	+	4	2226	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	687					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGATTTGCCCCTCCAAAGCC	0.607000														21			29		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428761	142428761	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142428761G>A	uc011ksk.1	+	1	138	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTTTTTCTGGAATGTGTCCA	0.433000														29			23		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46785381	46785381	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:46785381G>A	uc003bhw.1	-	17	6361	c.6361C>T	c.(6361-6363)Cgc>Tgc	p.R2121C	CELSR1_uc011arc.1_Missense_Mutation_p.R442C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2121					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTCATTGCGGCTCAGCTTC	0.607000														37			25		0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26691945	26691945	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26691945T>C	uc010wai.1	-	1	156	c.142A>G	c.(142-144)Aag>Gag	p.K48E	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	Homo sapiens SEBOX homeobox (SEBOX), mRNA.	48					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTGGTCCGCTTTCTCCGGTGG	0.637000														21			4		0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794860	124794860	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124794860C>T	uc001qbk.3	-	1	597	c.191G>A	c.(190-192)aGg>aAg	p.R64K	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.R64K	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	64	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.D63V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CACTACAGGCCTGTCGCTGCT	0.617000														3			35		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496542	152496542	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152496542T>C	uc021vrb.1	-	59	8747	c.8718A>G	c.(8716-8718)agA>agG	p.R2906R	NEB_uc002txu.3_Silent_p.R2906R|NEB_uc021vrc.1_Silent_p.R2906R|NEB_uc010fnx.3_Silent_p.R2906R|NEB_uc021vrd.1_Silent_p.R2906R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2906					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCCAATGCCTCTCATCCACT	0.398000														117			4		0	0	1	0	0
PHF16	9767	broad.mit.edu	37	X	46845161	46845161	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:46845161A>C	uc004dgx.3	+	2	145	c.94A>C	c.(94-96)Aaa>Caa	p.K32Q	PHF16_uc004dgy.3_Missense_Mutation_p.K32Q	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	32					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.K32E(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GATCAAGTCAAAAATTCCAAA	0.348000														15			4		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23549068	23549068	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23549068T>G	uc002wtk.4	-	0	319	c.20A>C	c.(19-21)aAg>aCg	p.K7T		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	7						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAGACCTCCCTTCCACGGCAG	0.592000														29			3		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48657218	48657218	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48657218T>G	uc002pia.1	-	5	497	c.377A>C	c.(376-378)aAg>aCg	p.K126T	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.K96T|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	126					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGGGAGCTGCTTCCGAGCTGG	0.597000								Nucleotide excision repair (NER)						30			6		0	0	1	0	0
NKAIN4	128414	broad.mit.edu	37	20	61880175	61880175	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61880175G>A	uc002yek.3	-	2	355	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	NKAIN4_uc010gkd.1_Missense_Mutation_p.L27F	NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 4 (NKAIN4), mRNA.	89						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ACCTTTAAGAGGCCACCGACT	0.612000														17			12		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113264	161113264	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161113264G>A	uc003lyu.2	+	1	405	c.67G>A	c.(67-69)Gtt>Att	p.V23I		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	23					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAACTCGAAGTTGAAGGCAA	0.473000										TCGA Ovarian(5;0.080)				28			15		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738822	138738822	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138738822A>C	uc003vun.3	-	10	2595	c.2207T>G	c.(2206-2208)cTa>cGa	p.L736R		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	736	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCTGGATGTAGGTGATGGAT	0.343000														22			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497142	179497142	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179497142T>C	uc021vsy.1	-	185	36002	c.35777_splice	c.e185-1	p.G11926_splice	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Splice_Site_p.G5621_splice|TTN_uc021vta.1_Splice_Site_p.G5554_splice|TTN_uc021vtb.1_Splice_Site_p.G5429_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12853	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)			GCCGGATTCCTATCAAGAAAA	0.338000														10			4		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661037	8661037	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8661037G>A	uc002mkj.1	-	10	1531	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	ADAMTS10_uc002mkk.1_Silent_p.L51L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	419	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGCAGCCATGAGCTTGGCTG	0.597000														65			54		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759741	115759741	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:115759741A>G	uc011lwy.2	-	4	2038	c.799T>C	c.(799-801)Tgt>Cgt	p.C267R		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CATTCTTTACAAACATAGGGC	0.388000														22			45		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449476	102449476	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102449476T>C	uc001yks.2	+	5	1246	c.1082T>C	c.(1081-1083)tTc>tCc	p.F361S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	361	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTGCCATTTTCACACATTTG	0.418000														50			18		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36293123	36293123	+	Missense_Mutation	SNP	G	A	A	rs145515786	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36293123G>A	uc003oly.3	-	5	1283	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	369										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GATGGGGTGGGAAGCACGGAG	0.567000														34			29		0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89789117	89789117	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:89789117A>G	uc003ujx.3	+	1	215	c.15A>G	c.(13-15)aaA>aaG	p.K5K	STEAP1_uc010lem.3_Silent_p.K5K	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	5					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AAAGCAGAAAAGACATCACAA	0.269000														48			9		0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42472774	42472774	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:42472774T>C	uc002rsi.3	+	1	417	c.155T>C	c.(154-156)cTt>cCt	p.L52P	EML4_uc002rsh.4_Missense_Mutation_p.L52P|EML4_uc010fap.3_Missense_Mutation_p.L52P	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	52					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTGAGGCGTCTTGCAATCTCT	0.403000			T	ALK	NSCLC									37			18		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968024	4968024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4968024C>T	uc010qys.2	-	0	307	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.443000														122			49		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701739	103701739	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103701739G>A	uc001vpy.4	-	4	1416	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	273					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGAGCTGAACGATGGTGGAAC	0.463000														43			28		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320002	31320002	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31320002T>G	uc010dmg.1	+	10	2689	c.2634T>G	c.(2632-2634)ccT>ccG	p.P878P	ASXL3_uc002kxq.2_Silent_p.P585P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K878M(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGTGTTACCTTCACCATTGG	0.373000														14			13		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823682	114823682	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:114823682C>T	uc003ibq.1	-	1	2436	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	ARSJ_uc010imu.1_Silent_p.V516V|ARSJ_uc010imv.1_Silent_p.V344V	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	516						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGAGCTTCTTCACGATTCCTG	0.512000														17			21		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56190020	56190020	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:56190020C>T	uc002xyo.3	-	3	706	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	ZBP1_uc010gjm.3_Missense_Mutation_p.R142Q|ZBP1_uc002xyp.3_Missense_Mutation_p.R67Q|ZBP1_uc010zzn.2_Missense_Mutation_p.R142Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	142						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding	p.R142*(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTACAAGTCTCGGTTCACATC	0.552000														125			90		0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357668	114357668	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:114357668C>T	uc010nqe.3	-	17	1968	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	LRCH2_uc004epz.3_Missense_Mutation_p.R629Q	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	646	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TATTTGCTCTCGCTCTTCCCG	0.408000														2			8		0	0	1	0	0
C19orf66	55337	broad.mit.edu	37	19	10197940	10197940	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10197940A>C	uc002mmu.4	+	2	457	c.159A>C	c.(157-159)aaA>aaC	p.K53N	C19orf66_uc002mmt.2_Missense_Mutation_p.K53N|C19orf66_uc002mmv.4_Missense_Mutation_p.K53N|C19orf66_uc002mmw.4_5'UTR	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	53										large_intestine(3)|skin(1)	4						TAAAGCAAAAAGATGGCCAAG	0.612000														41			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124326047	124326047	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124326047T>C	uc001uft.4	+	28	4986	c.4961T>C	c.(4960-4962)cTa>cCa	p.L1654P		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTAATAGACTAATTACCAAA	0.443000														5			33		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117306992	117306992	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117306992G>A	uc003vjd.3	+	26	4405	c.4273G>A	c.(4273-4275)Gat>Aat	p.D1425N	CFTR_uc011knq.2_Missense_Mutation_p.D831N	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1425	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCGGCAGTACGATTCCATCCA	0.547000									Cystic Fibrosis					30			15		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135947060	135947060	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135947060C>T	uc010naa.1	+	10	2196	c.2180C>T	c.(2179-2181)cCt>cTt	p.P727L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	724	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGGCCCCCCCTGTGCCCCCC	0.711000														18			10		0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49400021	49400021	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49400021A>C	uc003cwu.3	-	3	592	c.316T>G	c.(316-318)Ttc>Gtc	p.F106V	RHOA_uc010hku.3_Missense_Mutation_p.F25V	NM_001664	NP_001655	P61586	RHOA_HUMAN	Homo sapiens ras homolog gene family, member A (RHOA), mRNA.	106					Rho protein signal transduction|axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of axonogenesis|positive regulation of neuron differentiation|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TTGGGACAGAAATGCTTGACT	0.443000														65			28		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120517	38120517	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38120517T>C	uc003atr.3	+	6	2225	c.1954T>C	c.(1954-1956)Tgt>Cgt	p.C652R	TRIOBP_uc003atu.3_Missense_Mutation_p.C480R|TRIOBP_uc003atq.1_Missense_Mutation_p.C652R|TRIOBP_uc003ats.1_Missense_Mutation_p.C480R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	652					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGAACATCCTGTGCCCGACG	0.582000														82			6		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6681182	6681182	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6681182G>A	uc022aqv.1	-	3	649	c.498C>T	c.(496-498)ttC>ttT	p.F166F	XKR5_uc003wqq.3_Silent_p.F3F	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	166						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTGGCTTCATGAAGCCCATGA	0.592000														8			5		0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38297938	38297938	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38297938A>G	uc002rqo.2	-	2	1961	c.1559T>C	c.(1558-1560)gTc>gCc	p.V520A		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	520					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TCTGAGAGTGACATTGACTTT	0.428000														74			4		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942625	11942625	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11942625C>T	uc002msp.1	+	3	790	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTCCATTGTCTCAGATTATA	0.368000														56			56		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897104	23897104	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23897104C>T	uc001wjx.3	-	16	1685	c.1579_splice	c.e16-1	p.P527_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	527	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCCCATGGGCTGAGGAAGCA	0.532000														15			26		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046553	42046553	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42046553T>A	uc003xos.2	-	3	361	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Missense_Mutation_p.Q51L|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Missense_Mutation_p.Q51L|PLAT_uc011lcn.1_Missense_Mutation_p.Q51L	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	51	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.Y50C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGATGTTGCTGGTATATCAT	0.493000														179			63		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46508218	46508218	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:46508218C>T	uc004dgu.1	-	10	1370	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	454					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CGGCTCTGCCCAGGAAGATGG	0.488000														0			29		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197091051	197091051	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197091051G>A	uc001gtu.3	-	15	4121	c.3864C>T	c.(3862-3864)cgC>cgT	p.R1288R	ASPM_uc001gtv.3_Silent_p.R1288R|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1288					mitosis	cytoplasm|nucleus	calmodulin binding	p.R1288H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTACCTGATGGCGTTTGAGAT	0.313000														25			24		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960890	33960890	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33960890G>A	uc001bxj.4	+	7	3113	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	ZSCAN20_uc009vui.3_Silent_p.T981T	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	982					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGATTCATACGGGAGAGAAGC	0.473000														43			31		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008986	88008986	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:88008986G>A	uc022bzq.1	+	0	571	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CPXCR1_uc004efd.4_Missense_Mutation_p.E191K|CPXCR1_uc004efc.4_Missense_Mutation_p.E191K	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	191						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CACCCATCACGAGAGAGCCAT	0.423000														0			27		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285347	223285347	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:223285347A>C	uc021pjl.1	-	0	1027	c.1027T>G	c.(1027-1029)Ttg>Gtg	p.L343V	TLR5_uc001hnv.2_Missense_Mutation_p.L343V|TLR5_uc001hnw.2_Missense_Mutation_p.L343V	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	343					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTATATGACAAATTGAGAACT	0.373000														84			13		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42769021	42769021	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:42769021T>G	uc001uyl.2	+	17	2103	c.2036_splice	c.e17-1	p.V679_splice	DGKH_uc010tfh.2_Splice_Site_p.V679_splice|DGKH_uc001uym.2_Splice_Site_p.V679_splice|DGKH_uc001uyn.2_Splice_Site|DGKH_uc010tfi.2_Splice_Site_p.V434_splice|DGKH_uc001uyo.2_Splice_Site_p.V543_splice|DGKH_uc010tfj.2_Splice_Site_p.V543_splice|DGKH_uc001uyp.3_Splice_Site	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	679					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGCCAACAGTTAAAACTGCA	0.388000														14			6		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976461	4976461	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4976461G>A	uc010qyt.2	-	0	483	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTGAAAGGGAAGGGAAGAA	0.433000														114			54		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417948	116417948	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:116417948G>A	uc021pyx.1	-	0	111	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ABLIM1_uc021pyw.1_Silent_p.F4F|ABLIM1_uc021pyy.1_Intron|ABLIM1_uc021pyz.1_Intron|ABLIM1_uc021pza.1_Intron|ABLIM1_uc021pzf.1_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	4					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTAGACCAAGGAAGGCAGGCA	0.532000														56			42		0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029165	76029165	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76029165A>G	uc003ken.4	+	1	1380	c.1115A>G	c.(1114-1116)tAt>tGt	p.Y372C		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	372					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTAATTTACTATTACGCTTCC	0.493000														49			33		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33013832	33013832	+	RNA	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:33013832A>C	uc002edk.1	+	0		c.36A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GAGGTGAAGAAGCCTGGGGCC	0.602000														76			19		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203732	56203732	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:56203732A>C	uc002lhj.4	-	4	3901	c.3687T>G	c.(3685-3687)aaT>aaG	p.N1229K	ALPK2_uc002lhk.1_Missense_Mutation_p.N560K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1229							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCCTCCCAATTTCCAGGTC	0.468000														33			29		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176283	112176283	+	Silent	SNP	C	T	T	rs138743276		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112176283C>T	uc003kpz.4	+	16	5185	c.4992C>T	c.(4990-4992)tcC>tcT	p.S1664S	APC_uc011cvt.2_Silent_p.S1646S|APC_uc003kpy.4_Silent_p.S1664S|APC_uc010jbz.3_Silent_p.S1381S|APC_uc010jca.3_Silent_p.S964S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1664	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1664S(2)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAATCGAATCCCCTCCAAATG	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				8			10		0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108856	2108856	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2108856G>A	uc003slh.1	-	11	1457	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	MAD1L1_uc003sle.1_Silent_p.L126L|MAD1L1_uc003slf.1_Silent_p.L397L|MAD1L1_uc003slg.1_Silent_p.L397L|MAD1L1_uc010ksh.1_Silent_p.L397L|MAD1L1_uc003sli.1_Silent_p.L305L|MAD1L1_uc010ksi.1_Silent_p.L350L|MAD1L1_uc010ksj.3_Silent_p.L397L	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	397	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCGTTTCTGGAGCCTCCGGG	0.632000														74			64		0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158863	58158863	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:58158863A>T	uc001spz.1	-	3	873	c.721T>A	c.(721-723)Tgg>Agg	p.W241R	CYP27B1_uc001sqa.1_Missense_Mutation_p.W6R|CYP27B1_uc001sqb.1_Missense_Mutation_p.L121Q|CYP27B1_uc001sqc.1_Missense_Mutation_p.L121Q	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	241					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TGGCGCAGCCAGTGGGGCATC	0.642000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			5		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134323106	134323106	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:134323106T>C	uc010hty.3	-	10	1363	c.1301A>G	c.(1300-1302)aAg>aGg	p.K434R	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.K413R	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	434						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATAATTGCACTTGAGCGTGTA	0.572000														37			10		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062912	170062912	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170062912C>T	uc002ues.3	-	38	7531	c.7318G>A	c.(7318-7320)Gcc>Acc	p.A2440T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2440					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCCAGAGGCTAAATTTTGT	0.438000														11			12		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45534562	45534562	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45534562A>C	uc002zeb.3	+	4	473	c.383A>C	c.(382-384)aAg>aCg	p.K128T		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	128						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CCTGGGAAGAAGCGGGAGTTC	0.512000														72			13		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114185969	114185969	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:114185969G>A	uc003ynu.3	-	3	850	c.691C>T	c.(691-693)Cct>Tct	p.P231S	CSMD3_uc003ynt.3_Missense_Mutation_p.P191S|CSMD3_uc011lhx.2_Missense_Mutation_p.P231S|CSMD3_uc010mcx.1_Missense_Mutation_p.P231S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	231	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGAACAGGAAAATCCCAC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				47			50		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884995	24884995	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24884995C>T	uc001wpf.4	+	8	4358	c.4040C>T	c.(4039-4041)cCt>cTt	p.P1347L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1347					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCTGCTCCCCTTACACGCCA	0.607000														106			35		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180794456	180794456	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180794456C>T	uc001goi.3	+	8	1302	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	XPR1_uc009wxm.2_Silent_p.S370S|XPR1_uc009wxn.3_Silent_p.S370S	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACTATAAATCCCGGTTTTGGC	0.398000														63			15		0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997747	28997747	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28997747C>T	uc010vdj.2	+	5	434	c.398C>T	c.(397-399)tCc>tTc	p.S133F	NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Missense_Mutation_p.S97F|LAT_uc002dsd.3_Missense_Mutation_p.S97F|LAT_uc002dsc.3_Missense_Mutation_p.S96F|LAT_uc010vdk.1_Missense_Mutation_p.S97F|LAT_uc010vdl.1_Missense_Mutation_p.S96F	NM_001014989	NP_001014987	O43561	LAT_HUMAN	Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA.	97					Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				ACGCCATCTTCCCGGCGGGAT	0.642000														29			47		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101611999	101611999	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:101611999C>T	uc010yvt.1	+	20	2627	c.2625C>T	c.(2623-2625)gtC>gtT	p.V875V	NPAS2_uc002tap.1_Silent_p.V810V|NPAS2_uc010fit.1_3'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	810					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGAAGGGTCAGCAGTCTGT	0.622000														7			15		0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205416	100205416	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100205416C>T	uc003uvo.3	+	7	1367	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L		NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	390	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAGCAGTGCCCCCCCATGAAG	0.507000														47			34		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898288	30898288	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30898288C>T	uc002wxq.3	+	1	888	c.708C>T	c.(706-708)atC>atT	p.I236I	KIF3B_uc010ztv.2_Silent_p.I236I|KIF3B_uc010ztw.2_Silent_p.I236I	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	236	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAACCACATCCGTGTAGGAA	0.502000														33			11		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183764	13183764	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:13183764A>C	uc010obg.2	-	1	352	c.109T>G	c.(109-111)Ttt>Gtt	p.F37V		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	37						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TACTTGGAAAAGATCGCCTCC	0.468000														68			15		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882720	15882720	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15882720C>T	uc002yju.1	-	4	554	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.G226S	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	158					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATAGGGGCCATCGTCATCC	0.498000														46			42		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3967831	3967831	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3967831T>G	uc002fxe.3	-	28	4606	c.4542A>C	c.(4540-4542)gaA>gaC	p.E1514D	ZZEF1_uc002fxh.3_5'Flank|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.E127D	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1514							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACAAGGGCTCTTCAGCTGTGG	0.662000														65			31		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544628	10544628	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10544628A>T	uc002gmq.2	-	17	2109	c.2021T>A	c.(2020-2022)aTa>aAa	p.I674K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	674	Actin-binding.|Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATTGGGAATTATACAACGCAC	0.398000														7			185		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223002	78223002	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78223002C>T	uc002jyb.2	+	15	1878	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	SLC26A11_uc002jyc.2_Silent_p.I524I|SLC26A11_uc002jyd.2_Silent_p.I524I|SLC26A11_uc010dhv.2_Silent_p.I524I	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	524	STAS.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	p.S523S(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTGCAGCATCGACTACACTG	0.667000														1			23		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009523	5009523	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5009523G>A	uc001lzv.3	+	0	100	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	28					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)		AGACCATAAAGGATGGGACTT	0.488000														44			44		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049054	42049054	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:42049054T>C	uc001cgz.4	-	3	2628	c.1415A>G	c.(1414-1416)aAc>aGc	p.N472S	HIVEP3_uc001cha.4_Missense_Mutation_p.N472S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	472	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACGGCCTCGTTGATGGTGAT	0.617000														84			12		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483666	12483666	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:12483666A>T	uc001rai.1	-	3	849	c.591T>A	c.(589-591)gcT>gcA	p.A197A	MANSC1_uc010shm.1_Silent_p.A131A|MANSC1_uc001raj.1_Silent_p.A163A	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	197						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)		TTTCCTTATAAGCAAGGAGCT	0.448000														54			16		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748889	152748889	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152748889C>T	uc010pdv.2	+	0	42	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	14	Pro-rich.				keratinization			p.P14T(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCccctcccaagtgcactc	0.622000														39			33		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758510	5758510	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5758510C>T	uc001mbt.2	+	0	833	c.764C>T	c.(763-765)aCc>aTc	p.T255I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCACATCTCACCCTCATCCTT	0.398000														89			59		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238674	69238674	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:69238674A>G	uc002arn.2	+	1	955	c.801A>G	c.(799-801)ctA>ctG	p.L267L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	267	Poly-Ala.				multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GCCTTGCTCTAGCAGCAGCAG	0.383000														40			5		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952059	196952059	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196952059G>A	uc001gts.4	+	1	231	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	35	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTTCTGTATGATGAAGAAGA	0.333000														24			32		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169268	90169268	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:90169268T>G	uc003hsm.1	-	1	2513	c.1994A>C	c.(1993-1995)aAg>aCg	p.K665T	GPRIN3_uc021xqb.1_Missense_Mutation_p.K665T	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	665								p.Q666fs*23(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCCAAGCTGCTTTTTCTTATC	0.557000														30			18		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26223885	26223885	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:26223885T>G	uc003xeu.3	+	8	1356	c.1027T>G	c.(1027-1029)Ttt>Gtt	p.F343V	DOCK5_uc003xek.3_Missense_Mutation_p.F344V|DOCK5_uc011laf.2_Missense_Mutation_p.F353V	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGACTGCATATTTGACAAATT	0.313000														99			7		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464623	141464623	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141464623G>A	uc003vwp.1	+	0	727	c.665G>A	c.(664-666)aGa>aAa	p.R222K		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	222					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ACAAGCTCCAGAGATCCAACC	0.478000														23			22		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25438453	25438453	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25438453G>A	uc001yzf.1	+	2		c.331G>A			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CGCCGGGAAGGACGTGCCCTG	0.542000									Prader-Willi syndrome					13			145		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857743	101857743	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101857743C>T	uc001pgm.3	+	8	3485	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	KIAA1377_uc001pgn.3_Missense_Mutation_p.S1028F|KIAA1377_uc010run.2_Missense_Mutation_p.S873F	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	1072							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCCTAGAGTCCCTTAATGAT	0.303000														3			22		0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440778	168440778	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:168440778C>T	uc003qwk.1	+	5	790	c.528C>T	c.(526-528)ctC>ctT	p.L176L	KIF25_uc003qwl.1_Silent_p.L176L	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	176	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATGGAGCTCGTTCATGGAG	0.597000														4			56		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197404165G>A	uc001gtz.3	+	8	3381	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1058	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGACAACGAAACACCTTT	0.443000														39			40		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103704	125103704	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:125103704G>A	uc003yqw.3	+	33	4638	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1478						integral to membrane		p.E1478K(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAACCCACCGAAATCCTCAC	0.448000														61			41		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733668	50733668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:50733668C>T	uc002egm.1	+	1	448	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	NOD2_uc010cbj.1_Nonsense_Mutation_p.Q88*|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Nonsense_Mutation_p.Q88*|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	115	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGCCGACAGCCAGTCCCCCAA	0.652000														11			18		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233478	168233478	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:168233478G>A	uc010jjg.3	-	8	1328	c.908C>T	c.(907-909)gCc>gTc	p.A303V	SLIT3_uc003mab.3_Missense_Mutation_p.A303V|SLIT3_uc010jji.2_Missense_Mutation_p.A303V|SLIT3_uc003mac.1_Missense_Mutation_p.A100V	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	303	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCAAGTTGGCAGGAATCTC	0.577000														27			26		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135426616	135426616	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:135426616A>G	uc004ezu.1	+	5	1042	c.751A>G	c.(751-753)Act>Gct	p.T251A	GPR112_uc010nsb.1_Missense_Mutation_p.T46A|GPR112_uc010nsc.1_Missense_Mutation_p.T18A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	251					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGATATGACCACTCCATCCCA	0.323000														18			8		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45865083	45865083	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45865083T>A	uc010zxy.1	-	15	2946	c.2864A>T	c.(2863-2865)aAg>aTg	p.K955M	ZMYND8_uc010ghq.1_Missense_Mutation_p.K559M|ZMYND8_uc010ghr.1_Missense_Mutation_p.K857M|ZMYND8_uc002xst.1_Missense_Mutation_p.K810M|ZMYND8_uc002xsu.1_Missense_Mutation_p.K801M|ZMYND8_uc002xsv.1_Missense_Mutation_p.K856M|ZMYND8_uc002xsw.1_Missense_Mutation_p.K634M|ZMYND8_uc002xsx.1_Missense_Mutation_p.K634M|ZMYND8_uc002xsy.1_Missense_Mutation_p.K857M|ZMYND8_uc002xsz.1_Missense_Mutation_p.K819M|ZMYND8_uc002xta.1_Missense_Mutation_p.K928M|ZMYND8_uc002xtb.1_Missense_Mutation_p.K902M|ZMYND8_uc002xss.2_Missense_Mutation_p.K928M|ZMYND8_uc010zxz.1_Missense_Mutation_p.K796M|ZMYND8_uc002xtc.1_Missense_Mutation_p.K902M|ZMYND8_uc002xtd.1_Missense_Mutation_p.K877M|ZMYND8_uc002xte.1_Missense_Mutation_p.K882M|ZMYND8_uc010zya.1_Missense_Mutation_p.K928M|ZMYND8_uc002xtf.1_Missense_Mutation_p.K948M|ZMYND8_uc002xsr.1_Missense_Mutation_p.K27M	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	928							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTAGTGTACTTGGCAATATC	0.592000														118			23		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745611	131745611	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131745611T>C	uc004bws.1	+	17	1858	c.1836T>C	c.(1834-1836)gcT>gcC	p.A612A	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	612					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGTCATTGCTTCTTGTGTCA	0.448000														78			33		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172409985	172409985	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:172409985T>G	uc002ugy.4	+	2	722	c.532T>G	c.(532-534)Ttg>Gtg	p.L178V	CYBRD1_uc002ugz.4_Missense_Mutation_p.I108S	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	178	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	p.G177E(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						ACTTATGGGATTGACAGAGAA	0.378000														26			6		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350811	121350811	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121350811G>A	uc003eeh.4	-	13	1468	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	HCLS1_uc011bjj.2_Missense_Mutation_p.S411F	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	448	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CGGATCAAAGGAAAGCTCATC	0.502000														9			174		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916183	126916183	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:126916183C>T	uc003eji.1	+	1	895	c.655C>T	c.(655-657)Cag>Tag	p.Q219*						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TGAAGATTCTCAGCTGGACCC	0.652000														34			9		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265368	52265368	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:52265368C>T	uc002lfq.1	+	2	671	c.625C>T	c.(625-627)Cat>Tat	p.H209Y		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	209						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		ACCTACCGATCATTTATAATT	0.418000														3			40		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097549	75097549	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75097549G>C	uc001dgg.3	-	6	886	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E	C1orf173_uc001dgi.4_Missense_Mutation_p.Q17E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	223										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTGGAAGTTGATATGAATTC	0.403000														35			32		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275739	71275739	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71275739A>G	uc003hfi.3	+	2	868	c.694A>G	c.(694-696)Agc>Ggc	p.S232G		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	232					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AACTATATTAAGCAGCCCAGC	0.378000														15			44		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954778	10954778	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10954778G>A	uc001qyv.3	-	0	449	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	131					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TAGAATCCAGGAAATCACCCT	0.438000														17			10		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39583450	39583450	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:39583450A>C	uc002rro.3	-	2	276	c.185T>G	c.(184-186)aTt>aGt	p.I62S	MAP4K3_uc002rrp.3_Missense_Mutation_p.I62S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	62	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATCATAATAATTTCTTGCTG	0.308000														72			5		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951079	38951079	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38951079C>T	uc002oit.3	+	19	2555	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	RYR1_uc002oiu.3_Missense_Mutation_p.P809S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	809					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGCTATGCTCCATGCCATGA	0.622000														78			70		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67045454	67045454	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67045454T>G	uc002jhu.3	-	2	417	c.274A>C	c.(274-276)Aac>Cac	p.N92H	ABCA9_uc010dez.3_Missense_Mutation_p.N92H|ABCA9_uc002jhv.3_Missense_Mutation_p.N92H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	92					transport	integral to membrane	ATP binding|ATPase activity	p.N92S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCCACTTTGTTCATTATCTCT	0.353000														53			4		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754631	94754631	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94754631C>T	uc001yct.3	-	2	1450	c.984G>A	c.(982-984)atG>atA	p.M328I	SERPINA10_uc001ycu.4_Missense_Mutation_p.M328I	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	328					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACCTGGTTTTCATGTTTCTGA	0.478000														47			41		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17049365	17049365	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:17049365T>A	uc002gqv.2	+	9	1254	c.1165T>A	c.(1165-1167)Ttc>Atc	p.F389I	MPRIP_uc002gqu.2_Missense_Mutation_p.F389I|MPRIP_uc002gqw.2_Missense_Mutation_p.F144I	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	389	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCTGCTGAATTTCAAGAAAGG	0.537000														19			7		0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512702	68512702	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:68512702C>T	uc021ooq.1	-	0	279	c.279G>A	c.(277-279)aaG>aaA	p.K93K	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.K93K	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	93					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGTCGCCACTCTTGCTGTCGG	0.592000														118			93		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13542024	13542024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:13542024C>T	uc001imm.2	-	2	343	c.46G>A	c.(46-48)Gac>Aac	p.D16N	BEND7_uc001imo.4_Missense_Mutation_p.D16N	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	68							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CCAGTGCTGTCGTTCAGCAAT	0.443000														75			40		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596825	72596825	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:72596825G>A	uc003pga.3	+	0	176	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	33	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAGGAGAGGAACATTATCA	0.627000														0			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566679	136566679	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136566679G>A	uc002tuu.1	-	7	3249	c.3238C>T	c.(3238-3240)Ccc>Tcc	p.P1080S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1080	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCCCTGGGGGAAATTCCCCT	0.498000														28			9		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91409504	91409504	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91409504T>G	uc001xys.2	-	4	751	c.536A>C	c.(535-537)aAg>aCg	p.K179T	RPS6KA5_uc010twi.1_Missense_Mutation_p.K100T|RPS6KA5_uc001xyt.3_Missense_Mutation_p.K179T|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	179	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATTCTCAAGCTTAATATCACG	0.313000														57			5		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713519	222713519	+	Missense_Mutation	SNP	C	T	T	rs150512909	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:222713519C>T	uc001hnh.1	-	3	1341	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	428					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGGTCCCCTCGGTCCACAGC	0.582000														39			34		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712402	133712402	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:133712402G>A	uc001qgv.1	-	4	466	c.415C>T	c.(415-417)Cga>Tga	p.R139*		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	139					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.R139*(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TGCTCTATTCGATCTCGCATG	0.517000														2			40		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30105694	30105694	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:30105694A>C	uc001wqh.3	-	6	1173	c.992T>G	c.(991-993)cTt>cGt	p.L331R	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	331					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCCAGGGCTAAGCAAATCTAG	0.433000														28			16		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22078881	22078881	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:22078881A>T	uc001rfh.3	-	2	421	c.401T>A	c.(400-402)cTt>cAt	p.L134H	ABCC9_uc001rfi.1_Missense_Mutation_p.L134H|ABCC9_uc001rfk.3_Missense_Mutation_p.L134H|ABCC9_uc001rfl.1_Missense_Mutation_p.L134H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	134					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTACCTAAAAGTAATTTAGG	0.353000														27			33		0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27212510	27212510	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27212510A>C	uc001bnd.1	-	2	965	c.683T>G	c.(682-684)cTc>cGc	p.L228R	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	228							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GTCTTCGATGAGCTGCACTAG	0.517000														124			15		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728527	51728527	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51728527G>A	uc002pwa.2	+	1	131	c.91G>A	c.(91-93)Gta>Ata	p.V31I	CD33_uc010eos.1_Missense_Mutation_p.V31I|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	31	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GTCAGTGACGGTACAGGAGGG	0.582000														42			44		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141215150C>T	uc002tvj.1	-	60	10668	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)				29			65		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35161217	35161217	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:35161217G>A	uc003teq.1	-	13	1597	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCACTCAGGCGAATCTGGGAG	0.323000														19			20		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904143	21904143	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21904143G>A	uc002gza.2	+	0		c.82G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gcaggatgaggaaaccacagg	0.687000														109			9		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245815	46245815	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46245815C>T	uc003cph.1	-	2	61	c.-10_splice	c.e2-1		CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_5'Flank	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.						G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCGGCTTCTCCTACAGGTTA	0.458000														7			7		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12339601	12339601	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12339601A>C	uc001atv.3	+	19	4637	c.4496A>C	c.(4495-4497)aAg>aCg	p.K1499T	VPS13D_uc001atw.3_Missense_Mutation_p.K1499T|VPS13D_uc001atx.3_Missense_Mutation_p.K687T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1499					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)		AAACTGGAGAAGATCCCTATA	0.363000														82			4		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165308	139165308	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139165308C>T	uc003yuy.3	-	12	1581	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	FAM135B_uc003yux.3_Missense_Mutation_p.M371I|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.M32I|FAM135B_uc003yvb.3_Missense_Mutation_p.M32I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	470										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCAGAATCCATTTGGGATG	0.373000										HNSCC(54;0.14)				18			30		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77639588	77639588	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77639588G>A	uc001oys.3	-	10	1199	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.R391C	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	391					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GCAGCAATACGAACCTCTAGA	0.493000														3			5		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067583	190067583	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:190067583A>C	uc001gse.1	-	7	2098	c.1866T>G	c.(1864-1866)ttT>ttG	p.F622L	FAM5C_uc010pot.1_Missense_Mutation_p.F520L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	622						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)					GTACTGTCTCAAAAAATGTCT	0.443000														254			12		0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9196899	9196899	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9196899A>G	uc002czm.3	+	2	731	c.366A>G	c.(364-366)cgA>cgG	p.R122R		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.	122								p.R122Q(1)		endometrium(4)|large_intestine(2)|lung(2)	8						GCTATCAGCGACGCAATAAGG	0.393000														66			13		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124252199	124252199	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124252199T>C	uc001uft.4	+	1	103	c.78T>C	c.(76-78)acT>acC	p.T26T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	26	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A26E(1)		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)		AAGAAGAGACTTATTCTCAAA	0.483000														12			3		0	0	1	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37762051	37762051	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37762051C>T	uc004aai.3	+	1	200	c.123C>T	c.(121-123)atC>atT	p.I41I	RG9MTD3_uc011lqo.2_Silent_p.I41I|RG9MTD3_uc011lqp.2_Silent_p.I41I|RG9MTD3_uc011lqq.2_Missense_Mutation_p.S12L|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_5'UTR	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	41							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		TTCTGCAGATCGATGCGGAAG	0.567000														11			10		0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32502560	32502560	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32502560T>G	uc001bub.3	+	4	927	c.821T>G	c.(820-822)tTg>tGg	p.L274W	KHDRBS1_uc001bua.1_Missense_Mutation_p.L235W|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	274					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGTCCTACTTGAATGGAGTA	0.493000														126			26		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163074648	163074648	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163074648C>T	uc002ucd.3	-	8	818	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	FAP_uc010zct.2_Missense_Mutation_p.E179K|FAP_uc010fpe.1_Missense_Mutation_p.E171K	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	204					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GCAAGCATTTCCTCTGAAAAA	0.289000														16			23		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074194	20074194	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:20074194T>G	uc002zri.3	+	1	1137	c.708T>G	c.(706-708)aaT>aaG	p.N236K	DGCR8_uc010grz.3_Missense_Mutation_p.N236K|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	236	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGGCCTTGAATTTCCCCTACG	0.468000														173			9		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883542	74883542	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:74883542C>T	uc002aye.3	+	5	1133	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ARID3B_uc002ayd.3_Missense_Mutation_p.S311F|ARID3B_uc010bjs.1_Missense_Mutation_p.S16F	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	311	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GCCTTGAGTTCCCCAGCCGAG	0.552000														13			112		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176868	49176868	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49176868G>A	uc001rsh.4	-	0	1010	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ADCY6_uc001rsi.4_Missense_Mutation_p.S117F|ADCY6_uc001rsj.4_Missense_Mutation_p.S117F	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	117					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGCCAGCAGGATCGCCCACT	0.667000														35			115		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191454	23191454	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23191454G>A	uc009vqj.1	+	4	1197	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	EPHB2_uc001bge.3_Missense_Mutation_p.G351E|EPHB2_uc001bgf.3_Missense_Mutation_p.G351E|EPHB2_uc010odu.2_Missense_Mutation_p.G351E|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	351	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCGACTCCGGAGGCCGAGAG	0.662000														170			68		0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41655500	41655500	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41655500G>A	uc021yzl.1	-	4	920	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	TFEB_uc003oqs.1_Missense_Mutation_p.H240Y|TFEB_uc003oqt.1_Missense_Mutation_p.H240Y|TFEB_uc003oqu.1_Missense_Mutation_p.H240Y|TFEB_uc003oqv.1_Missense_Mutation_p.H240Y|TFEB_uc010jxo.1_Missense_Mutation_p.H240Y|TFEB_uc003oqr.1_Missense_Mutation_p.H155Y	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	240	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTTAAGTTGTGATTGTCTTTC	0.587000			T	ALPHA	renal (childhood epithelioid)									114			86		0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126887407	126887407	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:126887407T>C	uc003kuk.3	+	8	1317	c.1137T>C	c.(1135-1137)agT>agC	p.S379S	PRRC1_uc003kuj.4_3'UTR|PRRC1_uc021ydd.1_5'Flank	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	379						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AGGCTCAAAGTCTAACTCCCC	0.383000														20			3		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281118	158281118	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:158281118G>C	uc003ipm.4	+	12	2573	c.2114G>C	c.(2113-2115)aGg>aCg	p.R705T	GRIA2_uc011cit.2_Missense_Mutation_p.R658T|GRIA2_uc003ipl.4_Missense_Mutation_p.R705T|GRIA2_uc003ipk.4_Missense_Mutation_p.R658T|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.R15T|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.R15T|GRIA2_uc011ciy.1_Missense_Mutation_p.R15T|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	705					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTGTTTGTGAGGACTACGGCC	0.493000														9			26		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777908	31777908	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31777908T>G	uc003nxh.3	-	1	2025	c.1842A>C	c.(1840-1842)caA>caC	p.Q614H	HSPA1L_uc010jte.3_Missense_Mutation_p.Q614H|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q614H	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	614					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGCATCCTCCTTGGTAGAGTT	0.473000														83			8		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113657364C>T	uc003ynu.3	-	19	3443	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	CSMD3_uc003yns.3_Nonsense_Mutation_p.W367*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W1055*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W991*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1095	CUB 6.					integral to membrane|plasma membrane		p.W1095*(4)|p.T1094K(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				6			25		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600167	58600167	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58600167A>C	uc010yht.1	-	2	639	c.609T>G	c.(607-609)atT>atG	p.I203M	ZSCAN18_uc002qrj.3_Missense_Mutation_p.I147M|ZSCAN18_uc010yhs.1_Missense_Mutation_p.I12M|ZSCAN18_uc002qrh.2_Missense_Mutation_p.I147M|ZSCAN18_uc002qri.2_Missense_Mutation_p.I147M|ZSCAN18_uc002qrk.1_Missense_Mutation_p.I147M|ZSCAN18_uc002qrl.2_Missense_Mutation_p.I147M	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	147					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CATCGCTAAGAATTGAGGATG	0.622000														114			20		0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538529	27538529	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27538529C>T	uc001its.2	-	0	2707	c.864G>A	c.(862-864)acG>acA	p.T288T						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		GTCCAACCTCCGTAGTGGGTT	0.498000														107			101		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806893	2806893	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:2806893C>T	uc022aqr.1	-	67	10720	c.10330G>A	c.(10330-10332)Gaa>Aaa	p.E3444K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2759K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1336K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3445						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)		CCTCCTCTTTCAAGTCCAGAT	0.308000														16			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834252	61834252	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61834252G>A	uc001jky.3	-	36	6725	c.6387C>T	c.(6385-6387)ggC>ggT	p.G2129G	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2129					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTTTCAAAGCCACTGTCAG	0.418000														72			29		0	0	1	0	0
C11orf94	143678	broad.mit.edu	37	11	45928453	45928453	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45928453C>T	uc001nbs.4	-	1	179	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	48						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TGCGAGAGTTCCAGGGGGGCG	0.627000														72			47		0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	624595	624595	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:624595C>T	uc003jbf.3	+	3	485	c.413C>T	c.(412-414)cCc>cTc	p.P138L	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	138	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACGATCGCCCCGTGAGAGCA	0.597000														48			20		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228773	142228774	+	Missense_Mutation	DNP	GG	TA	TA	rs144027256		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142228773_142228774GG>TA	uc003ywd.1	-	3	1120_1121	c.812_813CC>TA	c.(811-813)ccc>cTA	p.P271L	SLC45A4_uc003ywc.1_Missense_Mutation_p.P271L|SLC45A4_uc010meq.1_Missense_Mutation_p.P269L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	322					transport	integral to membrane		p.P271A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACAGCAGCTCGGGCTCCAGGTC	0.668000														67			65		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37012811	37012811	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:37012811A>C	uc001uvr.4	+	4	1050	c.700A>C	c.(700-702)Aag>Cag	p.K234Q	CCNA1_uc010teo.2_Missense_Mutation_p.K190Q|CCNA1_uc010abq.3_Missense_Mutation_p.K190Q|CCNA1_uc010abp.3_Missense_Mutation_p.K190Q|CCNA1_uc001uvs.4_Missense_Mutation_p.K233Q|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	234					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACACTACATGAAGAAGCAGCC	0.443000														38			6		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:108703566T>A	uc003dxl.3	-	22	2408	c.2321A>T	c.(2320-2322)aAa>aTa	p.K774I	MORC1_uc011bhn.2_Missense_Mutation_p.K753I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	774					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						CACTCACCTTTTCCAGCTAGG	0.338000														4			8		0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81970632	81970632	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:81970632T>C	uc010tvv.2	-	4	644	c.527A>G	c.(526-528)aAg>aGg	p.K176R	SEL1L_uc001xvo.4_Missense_Mutation_p.K176R	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	176	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGCCGTCTCTTAGCAGCCTC	0.358000														71			4		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169532973	169532973	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169532973C>T	uc003mai.4	+	0	57	c.12C>T	c.(10-12)ttC>ttT	p.F4F	FOXI1_uc003maj.4_Silent_p.F4F	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	4				SSF -> NSG (in Ref. 2; AAB50574).	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTCCTTCGACCTGCCGG	0.692000									Pendred syndrome					9			7		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102249852	102249852	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102249852T>G	uc001krc.1	-	20	2980	c.2878A>C	c.(2878-2880)Agc>Cgc	p.S960R	SEC31B_uc010qpo.1_Missense_Mutation_p.S959R|SEC31B_uc001krd.1_Missense_Mutation_p.S497R|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	960	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACAGGGAAGCTTGCAGGAGGG	0.607000														52			16		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996203	100996203	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:100996203G>A	uc002bwa.3	-	12	1498	c.927C>T	c.(925-927)ttC>ttT	p.F309F	CERS3_uc002bvz.3_Silent_p.F298F|CERS3_uc002bwb.3_Silent_p.F298F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	298	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGTATGAAAAGAAAGGCTCGA	0.393000														22			14		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22748959	22748959	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:22748959A>C	uc003gqp.4	+	2	418	c.327A>C	c.(325-327)aaA>aaC	p.K109N	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.K110N	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	109					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.K109E(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTGTTAAAAAATGGGGTTA	0.368000														70			10		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182635135	182635135	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:182635135T>C	uc010pnw.1	-	4	420	c.162A>G	c.(160-162)gcA>gcG	p.A54A	RGS8_uc001gpn.1_Silent_p.A54A|RGS8_uc001gpm.1_Silent_p.A72A	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	54					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CAAAGGAATCTGCCCACCTCG	0.403000														111			36		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133165	51133165	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51133165G>A	uc002pst.3	-	2	1572	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SYT3_uc002psv.3_Missense_Mutation_p.S313L|SYT3_uc010ycd.2_Missense_Mutation_p.S313L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	313	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGCTGGTCCGAGCCATAGAG	0.667000														91			61		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806934	143806934	+	Nonsense_Mutation	SNP	C	T	T	rs61734798		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143806934C>T	uc011ktz.2	+	0	259	c.259C>T	c.(259-261)Cag>Tag	p.Q87*		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTAATGAACCAGAAAAGAAC	0.428000														127			86		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298049	36298049	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36298049C>T	uc003oly.3	-	1	597	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	140										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCTGGCTCCCCTGCTGCTTC	0.622000														60			13		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814498	128814498	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:128814498T>G	uc003ifo.3	+	10	2521	c.2247T>G	c.(2245-2247)tcT>tcG	p.S749S	PLK4_uc011cgs.2_Silent_p.S717S|PLK4_uc011cgt.2_Silent_p.S708S	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	749					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAGGGAAGTCTTACACTTTAA	0.303000														39			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634635	179634635	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179634635G>A	uc021vsy.1	-	36	8898	c.8673C>T	c.(8671-8673)atC>atT	p.I2891I	TTN_uc021vsz.1_Silent_p.I2845I|TTN_uc021vta.1_Silent_p.I2845I|TTN_uc021vtb.1_Silent_p.I2845I|TTN_uc002unb.2_Silent_p.I2891I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2891	Ig-like 16.						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)			CAGGCACCTCGATATTTTTCA	0.373000														15			29		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77055372	77055372	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77055372G>A	uc003hjs.3	-	4	794	c.666C>T	c.(664-666)acC>acT	p.T222T	NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Silent_p.T42T|NUP54_uc011cbt.2_Silent_p.T174T|NUP54_uc003hjt.3_Silent_p.T42T	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	222	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTACAGTAAGGGTCTGGTTTC	0.358000														8			17		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587137	15587137	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15587137T>G	uc002nbg.3	-	1	477	c.344A>C	c.(343-345)gAt>gCt	p.D115A	PGLYRP2_uc002nbf.4_Missense_Mutation_p.D115A	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	115					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCGAGCCATCAGGTGCCAG	0.627000														147			8		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829321	72829321	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:72829321A>G	uc002fck.3	-	8	7933	c.7260T>C	c.(7258-7260)aaT>aaC	p.N2420N	ZFHX3_uc002fcl.3_Silent_p.N1506N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2420					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTTTTGAATTGAAGGTGG	0.537000														3			41		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028206	18028206	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18028206G>A	uc010gqw.1	+	15	3157	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	CECR2_uc010gqv.1_Missense_Mutation_p.E913K|CECR2_uc002zml.2_Missense_Mutation_p.E914K|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1097					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGTGGTTCCGAAAAGCTGCT	0.617000														26			17		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28796141	28796141	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28796141T>G	uc002rmb.2	+	20	1446	c.1402T>G	c.(1402-1404)Tta>Gta	p.L468V	PLB1_uc010ezj.2_Missense_Mutation_p.L479V|PLB1_uc002rmc.3_Missense_Mutation_p.L156V|PLB1_uc002rmd.1_5'UTR	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	468	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TAATGCCTTCTTAAACCAGGC	0.557000														15			3		0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77244361	77244361	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77244361C>T	uc001xst.2	+	5	1902	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	324	Involved in heparin-binding and antiangiogenic activity.				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATGTTTCTTCCCCGCAGCGGG	0.612000														4			4		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8416190	8416190	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:8416190C>T	uc001ape.3	-	21	5266	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K	RERE_uc001apf.3_Missense_Mutation_p.E1486K|RERE_uc001apd.3_Missense_Mutation_p.E932K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1486	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATCTCGTGCTCGTGTGGGGGC	0.662000														111			157		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113651089	113651089	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113651089A>G	uc003ynu.3	-	20	3521	c.3362T>C	c.(3361-3363)tTa>tCa	p.L1121S	CSMD3_uc003yns.3_Missense_Mutation_p.L393S|CSMD3_uc003ynt.3_Missense_Mutation_p.L1081S|CSMD3_uc011lhx.2_Missense_Mutation_p.L1017S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1121	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGATCAGTAAGTAGTCATG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				26			14		0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32794668	32794668	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32794668G>A	uc001bvb.1	+	7	700	c.637_splice	c.e7-1	p.D213_splice	HDAC1_uc010ohf.1_Splice_Site_p.D184_splice|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	Homo sapiens histone deacetylase 1 (HDAC1), mRNA.	213	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	NuRD complex|Sin3 complex|cytosol	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TTTTTAATTAGGATATCGGGG	0.463000														51			81		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612791	20612791	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20612791G>A	uc010tla.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(2)|p.R299M(1)		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)		CTTCCATGAGGAAGTTGTTAA	0.383000														49			29		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12977552	12977552	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12977552T>A	uc002mvm.3	+	17	2243	c.2115T>A	c.(2113-2115)tcT>tcA	p.S705S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	705	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGTTCTCTTCCTGCTCTC	0.607000														11			12		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34596321	34596321	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34596321T>C	uc002xer.1	+	8	1229	c.1073T>C	c.(1072-1074)cTa>cCa	p.L358P	C20orf152_uc002xes.1_Missense_Mutation_p.L358P|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	358										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCCTGGGGGCTACAGGGGACA	0.483000														67			11		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614810	7614810	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7614810C>T	uc010xjq.2	+	15	1893	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PNPLA6_uc002mgq.2_Silent_p.F503F|PNPLA6_uc010xjp.2_Silent_p.F477F|PNPLA6_uc002mgr.2_Silent_p.F503F|PNPLA6_uc002mgs.3_Silent_p.F542F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	542					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCACTTCGTGCTCTGGG	0.632000														54			15		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106675683	106675683	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:106675683A>T	uc001kyi.1	+	2	1015	c.788A>T	c.(787-789)aAa>aTa	p.K263I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	263						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAACCAACAAAAGGAAGGTA	0.468000														4			33		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083641	15083641	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15083641C>T	uc002naa.1	-	0	89	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	SLC1A6_uc010dzu.1_Missense_Mutation_p.E28K|SLC1A6_uc010xod.1_Missense_Mutation_p.G32E|SLC1A6_uc002nab.3_Missense_Mutation_p.E28K|SLC1A6_uc002nac.3_Missense_Mutation_p.E28K|SLC1A6_uc002nad.1_Missense_Mutation_p.E28K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	28					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCAGGCTTTCCTGCAGCCGC	0.662000														10			9		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183911237	183911237	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183911237C>T	uc003fmz.2	+	19	2101	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	ABCF3_uc003fna.2_Silent_p.F650F|ABCF3_uc003fnb.2_Silent_p.F337F	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	656	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAACAATTTCAGGGTGAGTG	0.582000														277			39		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246859	57246859	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:57246859C>T	uc003pdx.3	+	6	673	c.586C>T	c.(586-588)Cga>Tga	p.R196*	PRIM2_uc003pdw.3_Nonsense_Mutation_p.R196*	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	196					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.F195V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGATTTGTTTCGAGGAAGGAA	0.393000														30			9		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590551	140590551	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140590551T>G	uc003liz.3	+	0	2261	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	PCDHB12_uc011dak.2_Missense_Mutation_p.V354G|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	691					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTACCTGGTGGTGGCGTTG	0.706000														57			43		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27092737C>T	uc001bmv.1	+	8	3131	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q920*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q920*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q537*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	920					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									35			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179406093	179406093	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179406093C>T	uc021vsy.1	-	298	90232	c.90007G>A	c.(90007-90009)Gaa>Aaa	p.E30003K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23698K|TTN_uc021vta.1_Missense_Mutation_p.E23631K|TTN_uc021vtb.1_Missense_Mutation_p.E23506K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30930	Ig-like 136.						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)			ACACGGTGTTCATATTCTAAG	0.478000														4			3		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119762	50119762	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50119762G>A	uc010njr.2	-	23	3290	c.3246C>T	c.(3244-3246)atC>atT	p.I1082I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1089					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTACTTGCTGATGAGGTTTT	0.532000														2			14		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126408530	126408530	+	Missense_Mutation	SNP	G	A	A	rs149301924	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126408530G>A	uc003ifj.4	+	15	12847	c.12847G>A	c.(12847-12849)Gat>Aat	p.D4283N	FAT4_uc011cgp.2_Missense_Mutation_p.D2524N|FAT4_uc003ifi.1_Missense_Mutation_p.D1761N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4283	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D4226N(1)|p.D4283N(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTTACATCCGATGCAGGAAT	0.323000														20			31		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222378	8222378	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8222378A>G	uc002glc.3	+	12	2242	c.2087A>G	c.(2086-2088)cAg>cGg	p.Q696R	ARHGEF15_uc002gld.3_Missense_Mutation_p.Q696R|ARHGEF15_uc010vuw.2_Missense_Mutation_p.Q585R	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	696					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCCAGGCCCAGCAGGTTCCG	0.642000														79			11		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282962	152282962	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152282962C>T	uc001ezu.1	-	2	4436	c.4400G>A	c.(4399-4401)gGa>gAa	p.G1467E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1467	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGCGGGATCCTTGTCTTCC	0.572000									Ichthyosis					169			172		0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3888854	3888854	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3888854T>G	uc002wkc.3	+	1	916	c.910T>G	c.(910-912)Ttc>Gtc	p.F304V	PANK2_uc002wkb.3_Missense_Mutation_p.F13V|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Intron|PANK2_uc002wke.3_Missense_Mutation_p.F13V|PANK2_uc002wkf.3_Intron	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGATAAAAACTTCTCGAGTCT	0.423000														37			9		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407550	50407550	+	Missense_Mutation	SNP	G	A	A	rs141604488		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:50407550G>A	uc002xwh.4	-	1	1573	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	491					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTAGTCCCCGAAGAAAGATT	0.562000														140			47		0	0	1	0	0
CREG1	8804	broad.mit.edu	37	1	167515373	167515373	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167515373G>A	uc001gel.3	-	2	702	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_003851	NP_003842	O75629	CREG1_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA.	208					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										CTGGTGTCACGATTTTTGGTC	0.428000														13			13		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454493	84454493	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:84454493C>T	uc001vlk.3	-	0	2036	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	384						integral to membrane		p.R383Q(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATCTTGTTATCTCGTAGGAAA	0.463000														75			44		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589643	11589643	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:11589643C>T	uc001ash.4	+	13	2967	c.2829C>T	c.(2827-2829)ccC>ccT	p.P943P		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	943					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)		CCCACAAGCCCCCCTTCCACG	0.632000														56			55		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96104240	96104240	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:96104240G>A	uc001pfx.4	-	6	1360	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	CCDC82_uc009ywp.3_Silent_p.N382N|CCDC82_uc009ywr.3_Silent_p.N382N	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	382							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GAACAAAGCGGTTATCCAAAT	0.373000														19			9		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20413969	20413969	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:20413969T>C	uc003zoe.2	-	4	1134	c.875A>G	c.(874-876)gAa>gGa	p.E292G	MLLT3_uc011lne.1_Missense_Mutation_p.E260G|MLLT3_uc011lnf.1_Missense_Mutation_p.E289G|MLLT3_uc003zof.3_Missense_Mutation_p.E93G|MIR4473_uc022bdy.1_5'Flank	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGCTGAGAGTTCTTCAGAATC	0.403000			T	MLL	ALL									92			42		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304434	11304434	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11304434A>G	uc002mqm.3	-	1	401	c.322T>C	c.(322-324)Tac>Cac	p.Y108H	KANK2_uc021upe.1_Missense_Mutation_p.Y108H|KANK2_uc002mqo.4_Missense_Mutation_p.Y108H|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.3_Missense_Mutation_p.Y108H	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	108										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TACTGAGGGTAGAAGCCACGG	0.672000														139			4		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605734	171605734	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:171605734C>T	uc001ghu.3	-	2	868	c.846G>A	c.(844-846)caG>caA	p.Q282Q	MYOC_uc010pmk.2_Silent_p.Q224Q	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	282	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACGTGGTCTCCTGGGTGTAGG	0.532000														39			42		0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186379307	186379307	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:186379307T>C	uc003ixu.4	-	5	2510	c.2434A>G	c.(2434-2436)Agt>Ggt	p.S812G	CCDC110_uc003ixv.4_Missense_Mutation_p.S775G|CCDC110_uc011ckt.1_Missense_Mutation_p.S812G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	812						nucleus		p.Q811E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAAGGCCTACTCTGAGGACTA	0.383000														19			3		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647197	57647197	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57647197T>G	uc002qnz.1	-	4	894	c.508A>C	c.(508-510)Aat>Cat	p.N170H		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACAGGCATTACATTTCAGT	0.383000														144			76		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063255	46063255	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46063255A>G	uc003cpe.3	-	2	409	c.185T>C	c.(184-186)cTg>cCg	p.L62P	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.L62P|XCR1_uc021wwx.1_Missense_Mutation_p.L62P	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	62					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGGACTCCAGGCTCTCATA	0.572000														33			7		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749451	61749451	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:61749451T>C	uc003xue.3	+	16	4557	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1355	Helicase C-terminal.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCTCCAAACCTGATTCTGATA	0.478000														126			42		0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455199	37455199	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37455199T>C	uc002rpz.3	-	1	1167	c.1137A>G	c.(1135-1137)gaA>gaG	p.E379E		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	379					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAGCCTTTTCTTCCTCAGGCT	0.413000														46			15		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452456	26452456	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26452456T>C	uc003nhz.3	+	10	1815	c.1572T>C	c.(1570-1572)ccT>ccC	p.P524P	BTN3A3_uc011dkn.2_Silent_p.P475P|BTN3A3_uc021ynh.1_Silent_p.P314P	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	524						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CCCCCGATCCTGACCTAGTGC	0.512000														59			19		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361305	144361305	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:144361305C>T	uc003ijd.3	+	5	1714	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	GAB1_uc003ije.3_Missense_Mutation_p.P452L|GAB1_uc011chq.2_Missense_Mutation_p.P349L	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	452	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CCAATGAATCCCAATTCACCA	0.353000														51			24		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36230908	36230908	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36230908T>A	uc001bzi.3	-	1	124	c.44A>T	c.(43-45)gAc>gTc	p.D15V	CLSPN_uc009vux.3_Missense_Mutation_p.D15V	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	15					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACGTTTGGGTCATTGATTTC	0.413000														82			15		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585466	4585466	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:4585466G>A	uc003zij.2	+	11	1736	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	495					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.E495K(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCTTGACAACGAAGACTCAGA	0.473000														28			14		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197031084	197031084	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197031084G>A	uc001gtt.1	-	2	325	c.281C>T	c.(280-282)cCt>cTt	p.P94L		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	94	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACTCAGGTCAGGCTTAGTGCA	0.323000														14			6		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091875	147091875	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:147091875G>A	uc001epq.3	+	7	2654	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	BCL9_uc010ozr.1_Silent_p.E564E	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	638	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCTGGCAGAGAAACAGCTGG	0.597000			T	"""IGH@, IGL@"""	B-ALL									42			28		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31004745	31004745	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31004745C>T	uc010cad.2	-	7	710	c.598G>A	c.(598-600)Gag>Aag	p.E200K	STX1B_uc010vfd.2_Missense_Mutation_p.E200K	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	200	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTGATGATCTCATTGTGCCTC	0.542000														19			46		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71752264	71752264	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:71752264G>A	uc003kce.1	-	2	1677	c.1491C>T	c.(1489-1491)atC>atT	p.I497I		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGAGTGGACGATCATGTGTG	0.557000														67			54		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950202	118950202	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:118950202G>A	uc004bjn.3	+	1	1566	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	PAPPA_uc011lxp.1_Silent_p.L188L|PAPPA_uc011lxq.2_Silent_p.L188L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	395	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						CCTGGGAGCTGGACGTGCTGG	0.577000														39			13		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528862	20528862	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20528862T>C	uc001vwn.1	+	0	659	c.659T>C	c.(658-660)gTc>gCc	p.V220A		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCTTACATTGTCATCCTGGTC	0.458000														100			9		0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	5966149	5966149	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5966149C>T	uc003sph.1	-	20	2734	c.2463G>A	c.(2461-2463)gaG>gaA	p.E821E	RSPH10B_uc003spg.1_3'UTR|RSPH10B_uc010ktd.1_Silent_p.E821E	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	821										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTCTCTTGGCCTCTTCCTCTC	0.483000														55			21		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325840	1325840	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1325840T>G	uc001afi.2	-	7	896	c.864_splice	c.e7+1	p.K288_splice	CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	288					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGAAGAACCTTTTTCCGAGC	0.433000														90			4		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152544864	152544864	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152544864A>G	uc021vrb.1	-	22	2386	c.2357T>C	c.(2356-2358)aTa>aCa	p.I786T	NEB_uc002txu.3_Missense_Mutation_p.I786T|NEB_uc021vrc.1_Missense_Mutation_p.I786T|NEB_uc010fnx.3_Missense_Mutation_p.I786T|NEB_uc021vrd.1_Missense_Mutation_p.I786T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	786					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTGCTGGTATATGGCACTT	0.383000														34			4		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35860956	35860956	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35860956G>A	uc003jjs.3	+	1	174	c.85G>A	c.(85-87)Gac>Aac	p.D29N	IL7R_uc011coo.2_Missense_Mutation_p.D29N|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	29					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.D29Y(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTCCCCAGGAGACTTGGAAGA	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							124			25		0	0	1	0	0
GSTT2	2953	broad.mit.edu	37	22	24323187	24323187	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24323187T>A	uc002zzb.4	+	1	236	c.161T>A	c.(160-162)cTg>cAg	p.L54Q	DDT_uc002zza.4_5'Flank|GSTT2_uc002zzc.4_Missense_Mutation_p.L54Q	NM_000854	NP_001074312	P0CG30	GSTT2_HUMAN	Homo sapiens glutathione S-transferase theta 2 (GSTT2), mRNA.	54	GST N-terminal.|Glutathione binding.					cytoplasm	glutathione transferase activity			lung(1)	1						CTGGGGAAACTGCCGACGCTC	0.547000														132			5		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052705	43052705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:43052705C>T	uc002xma.3	+	7	1029	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	HNF4A_uc002xlt.3_Nonsense_Mutation_p.Q292*|HNF4A_uc002xlu.3_Nonsense_Mutation_p.Q292*|HNF4A_uc002xlv.3_Nonsense_Mutation_p.Q292*|HNF4A_uc002xly.3_Nonsense_Mutation_p.Q314*|HNF4A_uc010ggq.3_Nonsense_Mutation_p.Q307*|HNF4A_uc002xlz.3_Nonsense_Mutation_p.Q314*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	314					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGCGTTCCCAGGTGCAGGT	0.612000														14			12		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11227637	11227637	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11227637A>C	uc002mqk.4	+	11	1995	c.1808A>C	c.(1807-1809)aAg>aCg	p.K603T	LDLR_uc010xlk.2_Missense_Mutation_p.K603T|LDLR_uc010xll.2_Missense_Mutation_p.K562T|LDLR_uc021upc.1_Missense_Mutation_p.K482T|LDLR_uc010xln.2_Missense_Mutation_p.K476T|LDLR_uc010xlo.2_Missense_Mutation_p.K435T|LDLR_uc010xlm.2_Missense_Mutation_p.K456T|LDLR_uc021upd.1_Missense_Mutation_p.K340T	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	603					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GAGGATGAAAAGAGGCTGGCC	0.542000														155			50		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959920	92959920	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92959920A>C	uc001yak.3	+	16	1840	c.1817A>C	c.(1816-1818)gAg>gCg	p.E606A	SLC24A4_uc001yai.3_Missense_Mutation_p.E542A|SLC24A4_uc010twm.2_Missense_Mutation_p.E587A|SLC24A4_uc010auj.3_3'UTR|SLC24A4_uc010twn.2_Missense_Mutation_p.E362A|SLC24A4_uc001yan.3_Missense_Mutation_p.E300A	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	606						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D605H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATAATGATAGAGTTTAACGTC	0.547000														37			9		0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185823718	185823718	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185823718G>A	uc003fpy.3	-	1	131	c.66C>T	c.(64-66)ttC>ttT	p.F22F	ETV5_uc003fpz.3_5'UTR	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	0					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATTTCTGGGGGAAAAGGGATC	0.403000			T	"""TMPRSS2, SCL45A3"""	Prostate									7			11		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472393	123472393	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123472393T>C	uc001uej.1	-	19	3252	c.3053A>G	c.(3052-3054)cAg>cGg	p.Q1018R	PITPNM2_uc001uek.1_Missense_Mutation_p.Q1012R	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	1018					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGTCAGAACCTGGGGGCCGTC	0.622000														34			5		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148515131	148515131	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148515131T>C	uc003wfd.2	-	9	1256	c.1063A>G	c.(1063-1065)Aga>Gga	p.R355G	EZH2_uc022aov.1_Missense_Mutation_p.R316G|EZH2_uc011kug.2_Missense_Mutation_p.R346G|EZH2_uc003wfb.2_Missense_Mutation_p.R360G|EZH2_uc003wfc.2_Missense_Mutation_p.R316G|EZH2_uc011kuh.2_Missense_Mutation_p.R346G|EZH2_uc011kui.2_Missense_Mutation_p.R355G|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	355					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGCCGTCCTCTTCTGCGGCCT	0.522000			Mis		DLBCL									111			5		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862725	23862725	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23862725C>T	uc001wjv.3	-	22	3002	c.2931G>A	c.(2929-2931)gtG>gtA	p.V977V		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	977					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTAGGTTCTTCACCTGCCGAC	0.532000														49			111		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92554330	92554330	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92554330C>T	uc001doo.3	+	1	492	c.225C>T	c.(223-225)gtC>gtT	p.V75V	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	75	BTB 1.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ACAAAGCAGTCCTTTTAGCAA	0.368000														48			10		0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924470	43924470	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:43924470G>T	uc001zsh.3	-	11	1703	c.1488C>A	c.(1486-1488)ctC>ctA	p.L496L	STRC_uc010udz.1_Non-coding_Transcript|CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.L494L|CATSPER2_uc001zsj.3_Silent_p.L494L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	496					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.L494fs*7(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AATATCGGAAGAGTGAGTCTC	0.483000														20			18		3.32936e-07	3.33898e-07	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135365	156135365	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:156135365C>T	uc003ioq.3	+	1	763	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	NPY2R_uc003ior.3_Silent_p.L92L|NPY2R_uc021xtm.1_Silent_p.L92L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	92					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.L92M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CATTGCCAATCTGGCTGTGGC	0.473000														21			17		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29606101	29606101	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29606101C>T	uc001bru.3	+	9	1826	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	PTPRU_uc009vtq.3_Missense_Mutation_p.S566F|PTPRU_uc009vtr.3_Missense_Mutation_p.S566F|PTPRU_uc001brw.3_Missense_Mutation_p.S566F	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	566	Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.S566S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACCTGTTCTCCGTGCGGGCC	0.617000														104			147		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677240	64677240	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64677240T>C	uc001obx.3	-	13	2135	c.2020A>G	c.(2020-2022)Agt>Ggt	p.S674G		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	674							protein binding	p.L673V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGGCTCACTCAGCTCCAGC	0.706000														85			7		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48149508	48149508	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:48149508G>A	uc002efc.1	-	12	2153	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	603	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCCCCAGAGAGGTTGAGGCCC	0.627000														0			24		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359322	64359322	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64359322C>T	uc001oam.1	+	0	1041	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SLC22A12_uc009ypr.1_Silent_p.L98L|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.L98L|SLC22A12_uc001oan.1_Silent_p.L98L|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	98					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGTGGCAGCTCTTGGACCCCA	0.662000														26			19		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6078197	6078197	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6078197C>T	uc002wmr.3	-	6	1720	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	FERMT1_uc010gbt.3_Missense_Mutation_p.E54K|FERMT1_uc002wms.3_Missense_Mutation_p.E311K|FERMT1_uc002wmt.3_Missense_Mutation_p.E54K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	311	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATCAACATTTCTTCCTCTGTG	0.418000														55			56		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489940	20489940	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20489940G>A	uc010bwe.3	+	10	1461	c.1222G>A	c.(1222-1224)Gga>Aga	p.G408R	ACSM2A_uc010vax.1_Missense_Mutation_p.G329R|ACSM2A_uc002dhf.4_Missense_Mutation_p.G408R|ACSM2A_uc002dhg.4_Missense_Mutation_p.G408R|ACSM2A_uc010vay.2_Missense_Mutation_p.G329R|ACSM2A_uc002dhh.4_Missense_Mutation_p.G38R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	408					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGGCACAGAAGGAGACATTGG	0.522000														38			15		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642682	104642682	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104642682C>T	uc001yos.4	+	11	3557	c.3557C>T	c.(3556-3558)tCc>tTc	p.S1186F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1186					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCCCCATCCCGACCCGGC	0.711000														9			7		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7247873	7247873	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7247873G>A	uc009xio.2	-	11	1439	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	SFMBT2_uc001ijn.2_Missense_Mutation_p.P450S|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	450					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGACCTCTGGAACAGGAGTC	0.443000														25			33		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640614	29640614	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29640614G>A	uc011dlw.2	-	3	1425	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	341					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GACCAGCCTGGAAAATGAGCT	0.517000														109			92		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011992	138011992	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:138011992C>T	uc010nar.3	+	5	1445	c.1426C>T	c.(1426-1428)Ctc>Ttc	p.L476F	OLFM1_uc004cfl.4_Missense_Mutation_p.L458F|OLFM1_uc004cfn.4_Missense_Mutation_p.L227F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	476	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACGTGACCCTCTTCCACGT	0.577000														22			30		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215972452	215972452	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:215972452G>A	uc001hku.1	-	49	10142	c.9755C>T	c.(9754-9756)cCa>cTa	p.P3252L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3252					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTCATCTGGACAGCATAC	0.403000										HNSCC(13;0.011)				21			11		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52303324	52303324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:52303324C>T	uc003pap.4	+	2	723	c.508C>T	c.(508-510)Cga>Tga	p.R170*	EFHC1_uc011dwv.1_Nonsense_Mutation_p.R79*|EFHC1_uc011dww.2_Nonsense_Mutation_p.R151*	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	170	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCTAAATCGAGGAATAAA	0.408000														35			28		0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959238	8959238	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8959238C>T	uc001mhd.1	-	1	531	c.471G>A	c.(469-471)aaG>aaA	p.K157K	ASCL3_uc021qdj.1_Silent_p.K157K	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	Homo sapiens achaete-scute complex homolog 3 (Drosophila) (ASCL3), mRNA.	156					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CAGGGTTATTCTTGGTCTCAG	0.438000														104			35		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038131	185038131	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:185038131C>T	uc003iwc.3	-	4	875	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	245					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGAAAATGTCGGTCATTCCG	0.532000														32			16		0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619224	1619224	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1619224C>T	uc001ltv.3	-	0	301	c.257G>A	c.(256-258)gGg>gAg	p.G86E	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Silent_p.P108P|LOC338651_uc001ltt.1_Non-coding_Transcript	NM_001004325	NP_001004325	Q701N4	KRA52_HUMAN	Homo sapiens keratin associated protein 5-2 (KRTAP5-2), mRNA.	86	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCCCCCTTGGAGCC	0.657000														100			76		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307279	102307279	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:102307279G>A	uc003pqp.4	+	9	1728	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	GRIK2_uc003pqn.3_Missense_Mutation_p.E479K|GRIK2_uc010kcw.3_Missense_Mutation_p.E479K|GRIK2_uc003pqo.4_Missense_Mutation_p.E479K|GRIK2_uc021zdk.1_Missense_Mutation_p.E479K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	479					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTTACATATGAAATTAGACT	0.388000														1			26		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556397	44556397	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44556397G>A	uc003tlb.3	-	16	3561	c.3505C>T	c.(3505-3507)Ctg>Ttg	p.L1169L	NPC1L1_uc011kbw.2_Silent_p.L1096L|NPC1L1_uc003tlc.3_Silent_p.L1142L|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1169					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATGGAGAGCAGGTTGAGGAGG	0.607000														20			12		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828719	28828719	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28828719G>A	uc002rmb.2	+	42	3006	c.2962_splice	c.e42-1	p.D988_splice	PLB1_uc010ezj.2_Splice_Site_p.D977_splice|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	988	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCTCTTTCAGGATGGGCTCC	0.542000														81			130		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676056	73676056	+	Silent	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73676056C>A	uc001ouo.3	+	3	1219	c.468C>A	c.(466-468)acC>acA	p.T156T		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	156					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TTGGCTGCACCAAAAAAATTA	0.567000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			32		3.1745e-13	3.19341e-13	1	1	0
KITLG	4254	broad.mit.edu	37	12	88898998	88898998	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:88898998T>G	uc001tav.3	-	8	992	c.797A>C	c.(796-798)aAa>aCa	p.K266T	KITLG_uc009zsn.3_Missense_Mutation_p.E54D|KITLG_uc001taw.3_Missense_Mutation_p.K238T	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	266					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CTCTCTCTCTTTCTCTTGCAA	0.338000									Testicular Cancer, Familial Clustering of					4			5		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15349970	15349970	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15349970G>A	uc002nar.3	-	17	3904	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1228					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCGGCGCGGCGGAACTGCTCG	0.632000			T	C15orf55	lethal midline carcinoma of young people									14			18		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96079800	96079800	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96079800A>G	uc004ati.1	+	29	6628	c.6628_splice	c.e29-2	p.M2210_splice	WNK2_uc011lud.1_Splice_Site_p.M2173_splice|WNK2_uc004atj.3_Splice_Site_p.M2173_splice|WNK2_uc004atk.3_Splice_Site_p.M1698_splice	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2210					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTGTTTTGTAGATGACCGCA	0.642000														35			12		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38340514	38340514	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38340514G>A	uc010cwu.1	+	2	520	c.30G>A	c.(28-30)aaG>aaA	p.K10K		NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	216					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGGGCCGGAAGCAAGCCTGTC	0.577000														96			174		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548726	28548726	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:28548726T>C	uc002hey.4	-	2	795	c.251A>G	c.(250-252)aAg>aGg	p.K84R		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	84					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATCCACCTTCTTGCCCCAGGT	0.562000														66			28		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206240141	206240141	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206240141G>A	uc001hdt.1	-	4	950	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	104						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TACCTGGCAGGCAGGAGGCGA	0.512000														64			51		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609150	21609150	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:21609150A>G	uc004czx.2	+	14	2148	c.1668A>G	c.(1666-1668)gcA>gcG	p.A556A	CNKSR2_uc004czw.3_Silent_p.A556A|CNKSR2_uc011mjn.2_Silent_p.A507A|CNKSR2_uc011mjo.2_Silent_p.A526A|CNKSR2_uc004czy.3_Silent_p.A148A	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	556					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCCTATAGCAGGCAAGAGCA	0.393000														95			15		0	0	1	0	0
F3	2152	broad.mit.edu	37	1	95001652	95001652	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:95001652T>C	uc001dqr.3	-	2	502	c.281A>G	c.(280-282)gAg>gGg	p.E94G	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Missense_Mutation_p.E94G	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	94					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	p.E94E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTCACAATCTCGTCGGTGAG	0.473000														209			29		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328504	74328504	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74328504T>A	uc002skb.4	+	8	4184	c.4184T>A	c.(4183-4185)cTg>cAg	p.L1395Q		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1395							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGCCCAGCCTGACTGAGAAG	0.632000														32			13		0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059566	13059566	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13059566T>C	uc002mvw.1	+	4	648	c.539T>C	c.(538-540)gTc>gCc	p.V180A	RAD23A_uc002mvz.1_Missense_Mutation_p.V180A|RAD23A_uc010xmw.1_Missense_Mutation_p.V15A	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	180	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	p.R179L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CGAGAGCGGGTCGTGGCCGCC	0.632000								Nucleotide excision repair (NER)						182			33		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	406954	406954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:406954C>T	uc003zgf.2	+	27	3527	c.3415C>T	c.(3415-3417)Cag>Tag	p.Q1139*	DOCK8_uc022bcu.1_Nonsense_Mutation_p.Q1071*|DOCK8_uc010mgv.3_Nonsense_Mutation_p.Q1039*|DOCK8_uc010mgu.3_Nonsense_Mutation_p.Q441*|DOCK8_uc003zgk.2_Nonsense_Mutation_p.Q597*	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1139					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTCCAGCTTCCAGGACCAGAA	0.522000														83			32		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498775	6498775	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:6498775C>T	uc001iji.1	-	14	1692	c.1608_splice	c.e14-1	p.R536_splice	PRKCQ_uc001ijj.2_Splice_Site_p.R503_splice|PRKCQ_uc009xim.2_Splice_Site_p.R503_splice|PRKCQ_uc009xin.2_Splice_Site_p.R467_splice|PRKCQ_uc010qax.2_Splice_Site_p.R378_splice	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	503	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTCAGGTCCCTGAAAAACAA	0.398000														21			12		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135026251	135026251	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:135026251G>A	uc001llz.1	+	23	4269	c.4268G>A	c.(4267-4269)gGg>gAg	p.G1423E		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGGCAACGGGCTGGTGCTG	0.701000														2			20		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113039	57113039	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57113039A>G	uc021tiu.1	+	42	5286	c.5159A>G	c.(5158-5160)gAg>gGg	p.E1720G	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Missense_Mutation_p.E262G|NLRC5_uc002ekr.1_Missense_Mutation_p.E607G	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1720					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CATTTGGAAGAGATCAGGTAA	0.652000														77			4		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18308239	18308240	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18308239_18308240GG>AA	uc001mod.1	-	18	3013_3014	c.2735_2736CC>TT	c.(2734-2736)tcc>tTT	p.S912F	HPS5_uc001moe.1_Missense_Mutation_p.S798F|HPS5_uc001mof.1_Missense_Mutation_p.S798F	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	912						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTGCAGAAGGGACTCAAGAAA	0.446000									Hermansky-Pudlak syndrome					33			6		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409848	56409849	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56409848_56409849AG>TA	uc001njb.1	-	0	67_68	c.67_68CT>TA	c.(67-69)ctt>TAt	p.L23Y	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ATTGTCGGAAAGTCCTAAGAGG	0.391000														55			17		0	0	1	0	0
LYRM2	57226	broad.mit.edu	37	6	90347063	90347064	+	Missense_Mutation	DNP	GG	AA	AA	rs142214691		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90347063_90347064GG>AA	uc003pnm.3	-	2	234_235	c.195_196CC>TT	c.(193-198)atccgg>atTTgg	p.R66W	LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|LYRM2_uc010kcg.3_Non-coding_Transcript|LYRM2_uc003pnl.4_Non-coding_Transcript|LYRM2_uc021zcr.1_Non-coding_Transcript	NM_020466	NP_065199	Q9NU23	LYRM2_HUMAN	Homo sapiens LYR motif containing 2 (LYRM2), transcript variant 1, mRNA.	66								p.R66W(2)		kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		ATCATCATCCGGATTGTATCCT	0.317000														0			5		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436590	436590	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:436590G>C	uc003gaf.4	-	2	1988	c.1762C>G	c.(1762-1764)Ccc>Gcc	p.P588A	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.P556A|ABCA11P_uc010ibe.3_Missense_Mutation_p.P544A	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		CATGTGTAGGGTTTCTCTCCA	0.403000														7			29		0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957797	152957797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152957797G>A	uc021ozn.1	+	0	91	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SPRR1A_uc009wnu.2_Missense_Mutation_p.E31K|SPRR1A_uc001faw.3_Missense_Mutation_p.E31K	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	31	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACCCCAGGAACCATGCAT	0.612000														77			63		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720807	135720807	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:135720807T>G	uc003eqv.2	+	1	1084	c.467T>G	c.(466-468)gTt>gGt	p.V156G	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	156					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGAGGTCAGTTGATTTGGAC	0.388000														61			17		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750357	164750357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164750357G>A	uc003fei.3	-	23	2752	c.2689C>T	c.(2689-2691)Caa>Taa	p.Q897*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	897	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATTGGTTGATTATTTTCC	0.323000										HNSCC(35;0.089)				63			21		0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7910879	7910879	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:7910879C>T	uc001aos.3	-	2	326	c.252G>A	c.(250-252)agG>agA	p.R84R	UTS2_uc001aoq.3_Silent_p.R69R|UTS2_uc001aor.3_Silent_p.R69R	NM_021995	NP_068835	O95399	UTS2_HUMAN	Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA.	69					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		TACCTGCTTTCCTGAGAATAT	0.453000														47			65		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70307141	70307141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:70307141C>T	uc003kar.1	-	4	1347	c.629G>A	c.(628-630)gGa>gAa	p.G210E	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G210E|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	210					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGGATCATCTCCTTCTTCCCA	0.383000														9			17		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45992234	45992234	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45992234C>T	uc002pcb.3	-	6	1482	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	RTN2_uc002pcc.3_Missense_Mutation_p.D345N|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	418	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGGTCCACATCCAGGTAGGCC	0.637000														10			8		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931180	157931180	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:157931180T>C	uc003wno.3	-	6	1059	c.938A>G	c.(937-939)gAc>gGc	p.D313G	PTPRN2_uc003wnp.3_Missense_Mutation_p.D296G|PTPRN2_uc003wnq.3_Missense_Mutation_p.D313G|PTPRN2_uc003wnr.3_Missense_Mutation_p.D275G|PTPRN2_uc011kwa.2_Missense_Mutation_p.D336G	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	313						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTCTGCAGGTCCTTCAGGAG	0.612000														81			17		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21868682	21868682	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:21868682G>A	uc004fug.3	-	24	4355	c.4067C>T	c.(4066-4068)tCt>tTt	p.S1356F	KDM5D_uc011naz.2_Missense_Mutation_p.S1387F|KDM5D_uc010nwy.3_Missense_Mutation_p.S1299F|KDM5D_uc004fuf.3_Missense_Mutation_p.S531F	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	1356					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGTCTTACCAGAGCCCTTTCC	0.478000														2			43		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902766	40902766	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40902766T>G	uc002onr.3	-	6	1762	c.1493A>C	c.(1492-1494)aAa>aCa	p.K498T	PRX_uc002onq.3_Missense_Mutation_p.K359T|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	498	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTGACACTTTGGGCAGCTC	0.577000														221			4		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391484	125391484	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125391484C>T	uc011lyz.2	-	0	331	c.331G>A	c.(331-333)Gtt>Att	p.V111I		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTATCTGTAACCCCAAATGCA	0.502000														9			22		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918116	56918116	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:56918116G>A	uc002ekd.4	+	14	1854	c.1825_splice	c.e14+1	p.E609_splice	SLC12A3_uc010ccm.3_Splice_Site_p.E609_splice|SLC12A3_uc010ccn.3_Splice_Site_p.E608_splice	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	609					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CAAGAAGCCAGGTGCGCATCT	0.657000														5			23		0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95869061	95869061	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95869061C>T	uc003yhb.3	+	14	1935	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INTS8_uc003yha.1_Silent_p.F603F|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Silent_p.F430F	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	603					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAACAGAGTTCTCACCGAAGC	0.483000														85			70		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123525926	123525926	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123525926A>T	uc010nqy.3	-	27	5728	c.5664T>A	c.(5662-5664)atT>atA	p.I1888I	ODZ1_uc011muj.2_Silent_p.I1887I|ODZ1_uc004euj.3_Silent_p.I1881I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1881					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TATAGCTCCAAATTTTCCCAT	0.373000														18			9		0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197598286	197598286	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197598286G>A	uc011bul.1	+	18	2088	c.2083G>A	c.(2083-2085)Gtg>Atg	p.V695M	LRCH3_uc003fyj.1_Missense_Mutation_p.V695M|LRCH3_uc011bum.1_Missense_Mutation_p.V643M|LRCH3_uc011bun.1_Missense_Mutation_p.V541M|LRCH3_uc003fyk.2_Missense_Mutation_p.V290M	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	695	CH.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GGCCAATCATGTGCGACCTCG	0.443000														311			43		0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95124505	95124505	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:95124505T>G	uc003klm.3	+	10	2200	c.1663T>G	c.(1663-1665)Ttc>Gtc	p.F555V		NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	555	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTACTTCATTTCATTGCTAC	0.348000														24			17		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192362	66192362	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66192362C>T	uc001ohx.1	+	6	2177	c.2001C>T	c.(1999-2001)ccC>ccT	p.P667P	NPAS4_uc010rpc.1_Silent_p.P457P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	667					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GACTGGAGCCCCTGGACTCCA	0.617000														112			103		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640390	7640390	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7640390C>T	uc001qsz.3	-	6	1842	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	CD163_uc001qta.3_Missense_Mutation_p.D572N|CD163_uc009zfw.2_Missense_Mutation_p.D572N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	572	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACTCCAACATCCCTGCTGTGG	0.483000														69			39		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718660	42718660	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:42718660G>A	uc021xxv.1	+	9	1209	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	GHR_uc003jmt.3_Missense_Mutation_p.D351N|GHR_uc003jmu.3_Missense_Mutation_p.D351N|GHR_uc003jmv.2_Missense_Mutation_p.D351N|GHR_uc021xxw.1_Missense_Mutation_p.D351N|GHR_uc021xxx.1_Missense_Mutation_p.D351N|GHR_uc021xxy.1_Missense_Mutation_p.D351N|GHR_uc021xxz.1_Missense_Mutation_p.D351N|GHR_uc021xya.1_Missense_Mutation_p.D351N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.D164N|GHR_uc021xyd.1_Missense_Mutation_p.D329N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	351					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCTAGATATTGATGAGCCAGA	0.413000														209			36		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34254204	34254204	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34254204C>T	uc001bxm.1	-	11	1837	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CSMD2_uc001bxn.1_Missense_Mutation_p.E514K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	514	Sushi 3.					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)				CAGTTACCTTCATAAGAAGCC	0.458000														49			29		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334895	71334895	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71334895T>G	uc010dfm.3	-	44	6350	c.6350A>C	c.(6349-6351)aAc>aCc	p.N2117T	SDK2_uc002jjt.4_Missense_Mutation_p.N1257T	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2117					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTGGTGCTGTTGGTGACGGT	0.647000														25			4		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724214	145724214	+	Silent	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145724214C>A	uc003zdd.3	+	2	1234	c.321C>A	c.(319-321)gcC>gcA	p.A107A	AK094577_uc003zde.1_Intron|PPP1R16A_uc003zdf.3_Silent_p.A107A	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	107						plasma membrane	protein binding	p.T106M(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTGACGGCCCTGCACCAGG	0.657000														27			24		7.92952e-12	7.97164e-12	1	1	0
UGT3A2	167127	broad.mit.edu	37	5	36039677	36039677	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36039677C>T	uc003jjz.2	-	4	1109	c.977G>A	c.(976-978)gGg>gAg	p.G326E	UGT3A2_uc011cos.2_Missense_Mutation_p.G292E|UGT3A2_uc011cot.2_Missense_Mutation_p.G24E	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	326						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATATCACCCCTTGGGGTAG	0.498000														29			69		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120957502	120957502	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:120957502C>T	uc001pxo.3	+	7	1177	c.972C>T	c.(970-972)atC>atT	p.I324I	TBCEL_uc009zay.3_Silent_p.I324I|TBCEL_uc001pxp.3_Silent_p.I180I|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	324						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		ATGAACTGATCACTAAATATG	0.403000														1			4		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458520	112458520	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112458520C>T	uc003kql.4	-	5	1304	c.888G>A	c.(886-888)gaG>gaA	p.E296E	MCC_uc003kqj.4_Silent_p.E106E|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.E106E|MCC_uc010jcd.1_Silent_p.E68E	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	106					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTCATCTTCCTCCCTGAGAA	0.458000														24			13		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20874556	20874556	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20874556G>A	uc001vxe.3	-	2	611	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R191C	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	191					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCAAACCAACGACCCTGGGGT	0.527000														69			24		0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026794	65026794	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:65026794G>A	uc002jft.2	+	3	706	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	220					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.R219W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GACCAAACGGGAATTCCTTAA	0.522000														4			81		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063095	44063095	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44063095C>T	uc003bdy.2	-	16	2186	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	EFCAB6_uc003bdz.2_Silent_p.V472V|EFCAB6_uc010gzi.2_Silent_p.V472V|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTTTTCAATCACTTCTTCTG	0.423000														46			36		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62194400	62194400	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:62194400G>A	uc002yfm.2	-	8	6667	c.5775C>T	c.(5773-5775)ggC>ggT	p.G1925G	PRIC285_uc002yfl.1_Silent_p.G1356G	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1925					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTACACACGGCCTGAGAAGC	0.692000														9			3		0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160326852	160326852	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160326852C>T	uc001fvx.3	+	15	1940	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*	NCSTN_uc001fvy.3_Nonsense_Mutation_p.Q586*|NCSTN_uc010pjf.2_Nonsense_Mutation_p.Q468*|NCSTN_uc010pjg.2_Nonsense_Mutation_p.Q348*	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	606					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCATGGGTCCAGGGCCCTTT	0.547000														63			50		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481173	142481173	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142481173G>A	uc011ksq.2	+	2	330	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		AGTCCTGGAGGGGAATGAGCA	0.517000														31			31		0	0	1	0	0
SRP19	6728	broad.mit.edu	37	5	112200422	112200422	+	Silent	SNP	C	T	T	rs147944769	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112200422C>T	uc003kqc.3	+	3	483	c.294C>T	c.(292-294)ttC>ttT	p.F98F	SRP19_uc021yck.1_Missense_Mutation_p.S73F|SRP19_uc003kqb.2_Silent_p.F98F|SRP19_uc021ycl.1_Silent_p.F74F|SRP19_uc011cvu.2_Silent_p.F98F	NM_003135	NP_003126	P09132	SRP19_HUMAN	Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA.	98					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TTGTACAGTTCCCATCACGTA	0.433000														19			19		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321640	56321640	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56321640A>C	uc010ygf.2	-	4	1047	c.336T>G	c.(334-336)acT>acG	p.T112T	NLRP11_uc002qlz.3_Silent_p.T13T|NLRP11_uc002qmb.3_Silent_p.T13T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	112							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATTTTCCAAAAGTGTGACTTT	0.383000														63			5		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632498	102632498	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102632498G>A	uc002tbm.3	+	3	727	c.498G>A	c.(496-498)aaG>aaA	p.K166K	IL1R2_uc002tbn.3_Silent_p.K166K|IL1R2_uc002tbo.1_Silent_p.K166K	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	166	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGACGTGAAGATTCAATGGT	0.368000														13			6		0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100828170	100828170	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100828170G>T	uc001yhh.1	-	2	569	c.188C>A	c.(187-189)cCt>cAt	p.P63H	WARS_uc001yhi.1_Missense_Mutation_p.P22H|WARS_uc001yhg.2_Missense_Mutation_p.P63H|WARS_uc001yhl.1_Missense_Mutation_p.P63H|WARS_uc001yhk.1_Missense_Mutation_p.P22H|WARS_uc010twz.1_Missense_Mutation_p.P63H	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	63	WHEP-TRS.				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GTTCCCTGGAGGACAGTCAGC	0.483000														49			43		2.19962e-31	2.21881e-31	1	1	0
TCRBV3S1	0	broad.mit.edu	37	7	142428878	142428878	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142428878C>T	uc011ksk.1	+	1	255	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Missense_Mutation_p.P35S					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGAGATATTCCTGAGGGGTA	0.473000														29			22		0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289709	68289709	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:68289709C>T	uc002evr.3	+	4	626	c.543C>T	c.(541-543)atC>atT	p.I181I	PLA2G15_uc010vld.2_Intron|PLA2G15_uc010vle.2_Intron|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Silent_p.I2I	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	181					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GCGAGATGATCGAGGAGATGT	0.627000														3			24		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819190	214819190	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:214819190T>G	uc001hkm.3	+	12	6451	c.6277T>G	c.(6277-6279)Ttg>Gtg	p.L2093V		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2189					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCAAGGCCTTGGAGGCCGC	0.478000														67			16		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792776	169792776	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:169792776G>A	uc002ueo.1	-	21	2904	c.2778C>T	c.(2776-2778)gcC>gcT	p.A926A	ABCB11_uc010zda.1_Silent_p.A368A|ABCB11_uc010zdb.1_Silent_p.A402A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	926	ABC transmembrane type-1 2.		A -> P (in BRIC2).		bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TATCTCGAGAGGCAAATCCTG	0.488000														34			19		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916128	9916128	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9916128T>G	uc010uym.2	-	10	2471	c.2161A>C	c.(2161-2163)Aaa>Caa	p.K721Q	GRIN2A_uc002czo.4_Missense_Mutation_p.K721Q|GRIN2A_uc010uyn.2_Missense_Mutation_p.K564Q|GRIN2A_uc002czr.4_Missense_Mutation_p.K721Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	721					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACCCCGTTTTCAGGCTGACC	0.473000														88			6		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145662197	145662197	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145662197G>A	uc011llg.2	-	14	1848	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	AK298596_uc011llh.1_Non-coding_Transcript	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	611					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CAGCCACCTCGAAGTGGCCAC	0.682000														70			66		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584175	28584175	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28584175C>T	uc002kwj.4	-	12	2201	c.2046G>A	c.(2044-2046)agG>agA	p.R682R	DSC3_uc002kwi.4_Silent_p.R682R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	682	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCCTGTACTCCTTGAAGTCG	0.383000														24			26		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741411	156741411	+	Silent	SNP	C	T	T	rs139943836	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156741411C>T	uc021ygm.1	+	11	1305	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	CYFIP2_uc011ddn.2_Silent_p.F364F|CYFIP2_uc011ddo.2_Silent_p.F194F|CYFIP2_uc021ygn.1_Silent_p.F389F|CYFIP2_uc021ygo.1_Silent_p.F389F|CYFIP2_uc003lwt.3_Silent_p.F268F|CYFIP2_uc011ddp.2_Silent_p.F124F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	390					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGAGCTCTTCGACCTAGCCC	0.597000														25			24		0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64000927	64000927	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:64000927T>C	uc001jlw.3	-	3	441	c.344A>G	c.(343-345)gAc>gGc	p.D115G	RTKN2_uc001jlx.2_Missense_Mutation_p.D115G	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	115					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGATCAGAGTCTTTCCACAT	0.289000														13			4		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264721	75264721	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75264721A>T	uc001xqj.4	+	4	2845	c.2721A>T	c.(2719-2721)caA>caT	p.Q907H	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	712	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACTCTCAACAAGAGCCACCTA	0.448000														26			3		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076780	73076780	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73076780T>C	uc001otu.3	+	19	5804	c.5783T>C	c.(5782-5784)cTg>cCg	p.L1928P		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1928					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGCGCTGCTGGTGTGTGAG	0.642000														45			4		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918640	31918640	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31918640G>A	uc003tcm.2	-	3	855	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	PDE1C_uc003tcn.1_Missense_Mutation_p.H132Y|PDE1C_uc003tco.2_Missense_Mutation_p.H192Y|PDE1C_uc003tcr.3_Missense_Mutation_p.H132Y|PDE1C_uc003tcs.3_Missense_Mutation_p.H132Y	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	132					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.H132H(1)		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)			TGCACTGCGTGAACGATGCTC	0.527000														69			65		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404292	179404292	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179404292C>T	uc021vsy.1	-	300	91021	c.90796G>A	c.(90796-90798)Gag>Aag	p.E30266K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23961K|TTN_uc021vta.1_Missense_Mutation_p.E23894K|TTN_uc021vtb.1_Missense_Mutation_p.E23769K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31193							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E23894*(1)|p.E30264*(1)|p.E30266*(1)|p.E23769*(1)|p.E23961*(1)		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)			TCTCGTCTCTCGAGGATGTAG	0.507000														57			99		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749795	142749795	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142749795C>T	uc011ksv.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCCCTTGATCGCTTTGTGGC	0.577000														75			60		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862854	31862854	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31862854C>T	uc003tcm.2	-	13	1876	c.1415G>A	c.(1414-1416)aGc>aAc	p.S472N	PDE1C_uc003tcn.1_Missense_Mutation_p.S472N|PDE1C_uc003tco.2_Missense_Mutation_p.S532N|PDE1C_uc003tcr.3_Missense_Mutation_p.S472N|PDE1C_uc003tcs.3_Missense_Mutation_p.S472N	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	472	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)			CGAGCTGATGCTATTCAAACT	0.453000														39			12		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7578291T>G	uc002gim.2	-	6	754	c.560_splice	c.e6-1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.3_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.2_Intron	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCCAGACCTAAGAGCAATC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				33			16		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62167114	62167114	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:62167114A>G	uc002agz.3	-	76	10466	c.10375T>C	c.(10375-10377)Tta>Cta	p.L3459L	VPS13C_uc002aha.3_Silent_p.L3416L|VPS13C_uc002ahb.2_Silent_p.L3459L|VPS13C_uc002ahc.2_Silent_p.L3416L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3459					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCAATCACTAACCCCTCTGCA	0.299000														7			64		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4719332	4719332	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4719332T>A	uc009zeh.1	+	12	1414	c.1372T>A	c.(1372-1374)Ttt>Att	p.F458I	DYRK4_uc001qmx.3_Missense_Mutation_p.F343I|DYRK4_uc001qmy.2_Missense_Mutation_p.F343I|DYRK4_uc021qtq.1_Missense_Mutation_p.F197I|DYRK4_uc001qmz.2_Missense_Mutation_p.F57I|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	343						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTCCAAAGGTTTTCCTAAAAA	0.418000														17			18		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17502560	17502560	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:17502560C>T	uc003zmy.3	+	25	4157	c.4131C>T	c.(4129-4131)gcC>gcT	p.A1377A	CNTLN_uc010mio.3_3'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	0						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTCCTTTTGCCTCATATTTAC	0.234000														4			3		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44836945	44836945	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44836945G>A	uc002zdf.2	-	13	2156	c.2029C>T	c.(2029-2031)Ccc>Tcc	p.P677S		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	677					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCCGGCTGGGGGGCCTGGGAG	0.726000														5			10		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76415946	76415946	+	Silent	SNP	G	A	A	rs149629426	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:76415946G>A	uc021rkq.1	+	23	4193	c.3858G>A	c.(3856-3858)ccG>ccA	p.P1286P	LMO7_uc010thv.2_Silent_p.P1004P|LMO7_uc001vjt.1_Silent_p.P952P|LMO7_uc001vjv.3_Silent_p.P1053P|LMO7_uc010thw.2_Silent_p.P930P|LMO7_uc001vjw.1_Silent_p.P959P	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1338						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAAGAAGCCGCAGGATCAGC	0.522000														38			20		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157814	48157814	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48157814C>T	uc001ngp.4	+	8	2194	c.1839C>T	c.(1837-1839)gtC>gtT	p.V613V	PTPRJ_uc010rhr.1_Silent_p.V58V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	613	Fibronectin type-III 6.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|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 platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|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						TGGACCACGTCTGGGGGGACC	0.522000														63			39		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621211	171621211	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:171621211T>G	uc001ghu.3	-	0	563	c.541A>C	c.(541-543)Aga>Cga	p.R181R	MYOC_uc010pmk.2_Silent_p.R123R	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	181					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCCCTTCTCAGCCTTGCT	0.562000														383			15		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98108084	98108084	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:98108084C>T	uc001kmj.3	-	4	650	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	OPALIN_uc010qor.2_Missense_Mutation_p.E61K|OPALIN_uc001kmi.3_Missense_Mutation_p.E61K|OPALIN_uc001kmk.3_Missense_Mutation_p.E48K|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	71						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCTGAAATTTCACATGGTCTG	0.313000														2			14		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16835115	16835115	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:16835115C>T	uc011nas.1	+	3	830	c.651C>T	c.(649-651)atC>atT	p.I217I	NLGN4Y_uc004fte.2_Silent_p.I29I|NLGN4Y_uc004ftg.2_Silent_p.I197I|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.I197I|NLGN4Y_uc004fti.4_Silent_p.I217I	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	197					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GGAACGTCATCGTTATCACCA	0.418000														1			55		0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127013831	127013831	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127013831T>G	uc010lla.2	-	4	2271	c.1559A>C	c.(1558-1560)aAg>aCg	p.K520T	ZNF800_uc003vlw.1_Missense_Mutation_p.K423T|ZNF800_uc003vlx.1_Missense_Mutation_p.K520T|ZNF800_uc003vly.1_Missense_Mutation_p.K520T	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AAGAGGACACTTGTAGAATTT	0.348000														66			5		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34033461	34033461	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:34033461T>G	uc003jio.3	-	2	659	c.518A>C	c.(517-519)cAg>cCg	p.Q173P	C1QTNF3_uc003jin.3_Missense_Mutation_p.Q100P	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	100	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GGGGCCATGCTGCCCCCGCTC	0.577000														103			15		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772461	4772461	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:4772461G>A	uc001alm.1	+	1	912	c.531G>A	c.(529-531)gaG>gaA	p.E177E	AJAP1_uc001aln.3_Silent_p.E177E	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	177	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCACCACAGAGACTGAGTTCA	0.672000														7			26		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330851	30330851	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30330851G>A	uc002ymr.2	-	13	2755	c.2742C>T	c.(2740-2742)atC>atT	p.I914I		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	868							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAGTTTACAGATAAGAAAAT	0.333000														19			23		0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034135	78034136	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:78034135_78034136GG>AA	uc001dhq.3	-	12	2823_2824	c.2347_2348CC>TT	c.(2347-2349)cct>TTt	p.P783F	ZZZ3_uc001dhr.3_Missense_Mutation_p.P289F|ZZZ3_uc001dhp.3_Missense_Mutation_p.P782F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACATGATAGGAATACTTTCG	0.262000														9			6		0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295410	51295410	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51295410G>A	uc002pta.1	+	4	531	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	177						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGTACCAGGAGGCCCTGGAGG	0.701000														17			14		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37350281	37350281	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37350281T>C	uc003jku.1	-	6	928	c.810A>G	c.(808-810)caA>caG	p.Q270Q	NUP155_uc003jkt.1_Silent_p.Q211Q|NUP155_uc010iuz.1_Silent_p.Q270Q	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	270					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAACGTGAATTGTAGCAAGG	0.358000														35			53		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	763576	763576	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:763576G>A	uc002lpo.3	+	4	2109	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	676										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACGCCAGTGAGGAGGATGA	0.627000														15			15		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547552	62547552	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:62547552G>A	uc001xfu.1	+	4	1191	c.994_splice	c.e4-1	p.E332_splice	SYT16_uc010tsd.1_Splice_Site_p.R361_splice|SYT16_uc010tse.1_Splice_Site	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	332										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCTGCAACAGGAACAGGACAG	0.483000														11			4		0	0	1	0	0
EDF1	8721	broad.mit.edu	37	9	139758301	139758301	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139758301C>T	uc004cjt.1	-	1	129	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	EDF1_uc022bpv.1_Missense_Mutation_p.R34Q|EDF1_uc004cju.1_Missense_Mutation_p.R34Q	NM_003792	NP_003783	O60869	EDF1_HUMAN	Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA.	34					endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATCTTCTCCTCGTCTCTGTGC	0.473000														57			15		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911790	101911790	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:101911790T>C	uc010nod.3	+	2	3591	c.2949T>C	c.(2947-2949)acT>acC	p.T983T	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.T983T|GPRASP1_uc004ejj.4_Silent_p.T983T|GPRASP1_uc004eji.4_Silent_p.T983T|GPRASP1_uc022cbd.1_Silent_p.T983T	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	983	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAACAGGACTGACAATGGAA	0.502000														42			17		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16263758	16263758	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16263758A>G	uc001axk.1	+	11	10331	c.10127A>G	c.(10126-10128)cAg>cGg	p.Q3376R	SPEN_uc010obp.1_Missense_Mutation_p.Q3335R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3376	Pro-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCTCGGTCAGCCCGGCCAG	0.682000														124			10		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941263	13941263	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13941263A>G	uc002mxh.1	+	12	2558	c.2369A>G	c.(2368-2370)cAg>cGg	p.Q790R	ZSWIM4_uc010xng.1_Missense_Mutation_p.Q713R	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	790							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCGGCCTACCAGATCGTGCTG	0.687000														140			27		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44057491	44057491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44057491C>T	uc001cjr.3	+	9	1880	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*	PTPRF_uc001cjs.3_Nonsense_Mutation_p.Q514*|PTPRF_uc001cju.3_Nonsense_Mutation_p.Q85*|PTPRF_uc009vwt.3_Nonsense_Mutation_p.Q85*|PTPRF_uc001cjv.3_Nonsense_Mutation_p.Q85*	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	514	Fibronectin type-III 3.				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)				AGTGCCTGCCCAGCCCGCGGA	0.637000														21			5		0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44438278	44438278	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44438278C>T	uc002zcq.1	+	6	846	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	PKNOX1_uc002zcp.1_Missense_Mutation_p.P220S|PKNOX1_uc011aex.1_Missense_Mutation_p.P103S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	220							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGTCGTCACTCCCCAAGGCCA	0.488000														22			16		0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229631686	229631686	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:229631686A>C	uc001htn.3	-	6	1020	c.928T>G	c.(928-930)Tgg>Ggg	p.W310G		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	310					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTATATCCCAACTGTATGCA	0.348000														39			9		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635073	70635073	+	Missense_Mutation	SNP	G	A	A	rs111708263		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70635073G>A	uc001xly.3	-	1	821	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	SLC8A3_uc001xlw.3_Missense_Mutation_p.L23F|SLC8A3_uc001xlx.3_Missense_Mutation_p.L23F|SLC8A3_uc001xlz.3_Missense_Mutation_p.L23F|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	23					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCAGGAAGAGCACAAAGGTA	0.547000														18			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885322	13885322	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13885322C>T	uc003jfd.2	-	18	2801	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	920	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCAAAATTTCCTTCTTCTCT	0.383000									Kartagener syndrome					16			39		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552640	95552640	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:95552640C>T	uc001kjc.4	+	5	980	c.644C>T	c.(643-645)tCc>tTc	p.S215F	LGI1_uc021pwk.1_Missense_Mutation_p.S215F|LGI1_uc010qnv.2_Missense_Mutation_p.S167F|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	215	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AATAGTCTCTCCTCGAAGGAT	0.408000														5			57		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58128306	58128306	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:58128306A>T	uc002iyk.1	-	14	2339	c.2322T>A	c.(2320-2322)ggT>ggA	p.G774G	HEATR6_uc010ddk.1_Silent_p.G313G|HEATR6_uc010wos.1_Intron	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	774							binding	p.N773K(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGGGTAAAGGACCGTTCAGCA	0.537000														31			10		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178390	67178390	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67178390A>C	uc010dfa.1	-	22	3552	c.2673T>G	c.(2671-2673)aaT>aaG	p.N891K	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.N492K	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	891					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGGAAAACAATTCAATTTCT	0.294000														17			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740964	140740964	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140740964C>T	uc003ljs.2	+	0	1262	c.1262C>T	c.(1261-1263)aCc>aTc	p.T421I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.T421I|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	423	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATCTCACCATCACAGCC	0.507000														46			39		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385042	33385042	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33385042G>A	uc003zst.3	-	7	1162	c.990C>T	c.(988-990)gcC>gcT	p.A330A	AQP7_uc003zsu.1_3'UTR	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	330					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTAAGGGTGGGGCAGGGTGGA	0.522000														121			67		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929598	105929598	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:105929598A>C	uc001pja.3	-	2	867	c.227T>G	c.(226-228)tTt>tGt	p.F76C	KBTBD3_uc001pjb.3_Missense_Mutation_p.F76C|KBTBD3_uc009yxm.3_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	72	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTACCTGAAAAAGTCACTGCA	0.323000														7			8		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183525296	183525296	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:183525296T>C	uc001gqj.4	-	14	1813	c.1538A>G	c.(1537-1539)gAc>gGc	p.D513G	NCF2_uc010pod.2_Missense_Mutation_p.D468G|NCF2_uc010poe.2_Missense_Mutation_p.D432G|NCF2_uc001gqk.4_Missense_Mutation_p.D513G	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	513	SH3 2.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGTTGCGCAGTCTTCAACAAA	0.408000														73			18		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609735	117609735	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117609735C>T	uc003pxp.1	-	42	7163	c.6964G>A	c.(6964-6966)Gct>Act	p.A2322T	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2322					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)		GGGCAGTAAGCCACTTGTTTT	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									1			29		0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24412565	24412565	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:24412565T>A	uc011djl.2	+	5	661	c.539T>A	c.(538-540)cTc>cAc	p.L180H	MRS2_uc003nea.3_Missense_Mutation_p.L177H|MRS2_uc003neb.3_Missense_Mutation_p.L177H|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.L127H	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	177					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GAGGGTCAACTCGTTACATAC	0.383000														64			19		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33205020	33205020	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:33205020T>G	uc001wrq.3	+	10	3474	c.3304T>G	c.(3304-3306)Ttc>Gtc	p.F1102V		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1102					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCTTTTCATCTTCAATTCCTG	0.393000														43			16		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223157	67223157	+	Missense_Mutation	SNP	C	T	T	rs11605013		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67223157C>T	uc001olo.3	+	0	340	c.263C>T	c.(262-264)cCt>cTt	p.P88L	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	88					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCATCCCCTGGGCCGGCC	0.692000														17			18		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429218	139429218	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:139429218C>T	uc002tvi.3	-	1	69	c.69G>A	c.(67-69)aaG>aaA	p.K23K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	23	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCACCACTTCCTTACTGTCAC	0.493000														34			24		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476234	70476234	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:70476234G>A	uc003xyg.2	+	3	585	c.24G>A	c.(22-24)ctG>ctA	p.L8L	SULF1_uc010lza.1_Silent_p.L8L|SULF1_uc003xyd.2_Silent_p.L8L|SULF1_uc003xye.2_Silent_p.L8L|SULF1_uc003xyf.2_Silent_p.L8L	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	8					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCTGTGCTCTGGTTTTGGCTG	0.478000														54			35		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843487	38843487	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38843487T>G	uc021yzh.1	+	52	7850	c.7741T>G	c.(7741-7743)Tta>Gta	p.L2581V	DNAH8_uc003ooe.2_Missense_Mutation_p.L2364V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTCTGGAATTAGAAAGCAG	0.408000														65			27		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050921	49050921	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49050921A>C	uc003cvj.2	+	1	2182	c.2044A>C	c.(2044-2046)Aac>Cac	p.N682H	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.N130H|WDR6_uc010hkn.2_Missense_Mutation_p.N626H|WDR6_uc011bbz.1_Missense_Mutation_p.N601H	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	652					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCACATCGTCAACTGTGGTGG	0.557000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			10		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101601144	101601144	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101601144G>A	uc003yjr.3	-	10	1193	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	SNX31_uc011lha.2_Nonsense_Mutation_p.Q143*|SNX31_uc011lhb.2_Nonsense_Mutation_p.Q249*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	348					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCACTGTATTGAAATCTGAGC	0.423000														61			56		0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3381641	3381641	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3381641T>G	uc001lxt.3	-	5	779	c.597A>C	c.(595-597)aaA>aaC	p.K199N	ZNF195_uc010qxr.2_Missense_Mutation_p.K180N|ZNF195_uc009ydz.3_Missense_Mutation_p.K154N|ZNF195_uc001lxu.3_Missense_Mutation_p.K131N|ZNF195_uc001lxv.3_Missense_Mutation_p.K176N|ZNF195_uc021qck.1_Missense_Mutation_p.K131N|ZNF195_uc001lxs.3_Missense_Mutation_p.K127N	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	199	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATTATAATCTTTTTGCAACT	0.279000														38			9		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955077	33955077	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:33955077G>A	uc001zhi.3	+	34	5416	c.5346G>A	c.(5344-5346)ggG>ggA	p.G1782G	RYR3_uc010bar.3_Silent_p.G1782G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1782	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGAGGCTGGGGAGAAGGCCG	0.572000														11			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598552	179598552	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179598552T>C	uc021vsy.1	-	49	12057	c.11832A>G	c.(11830-11832)caA>caG	p.Q3944Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.Q605Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4871							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)			TCACAGCAGCTTGCAGGGTAA	0.418000														56			26		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124391	217124391	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:217124391G>A	uc002vgb.3	-	3	2644	c.877C>T	c.(877-879)Cat>Tat	p.H293Y		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	293						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGTCCTTCATGGATGATGAGA	0.522000														13			19		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285833	248285833	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248285833C>T	uc001idy.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		AGGTTATTTTCATTTGCTCTA	0.423000														107			95		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432544	140432544	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140432544G>A	uc003lik.1	+	0	1566	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	497	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAAAAAACGGAGATCTTTC	0.408000														10			9		0	0	1	0	0
MDS2	259283	broad.mit.edu	37	1	23908083	23908083	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23908083G>A	uc001bhi.3	+	0		c.99G>A								Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						CCTTGGGAGGGACTGTGAAGA	0.592000			T	ETV6	MDS									17			8		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93077037	93077037	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:93077037G>A	uc003kkl.1	-	0	273	c.233C>T	c.(232-234)cCc>cTc	p.P78L	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGGCCTGCAGGGTGCTATCCA	0.682000														6			4		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132352079	132352079	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:132352079A>C	uc004exb.1	-	0	298	c.209T>G	c.(208-210)aTc>aGc	p.I70S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	70						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TACCACAGGGATGTTTGATGC	0.537000														28			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714156	183714156	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:183714156C>T	uc003ivd.1	+	24	6406	c.6331C>T	c.(6331-6333)Cgg>Tgg	p.R2111W		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2111					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAACATGGGTCGGGTAACCAA	0.408000														11			19		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244627250	244627250	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:244627250A>T	uc001iam.3	+	1	165	c.106A>T	c.(106-108)Aga>Tga	p.R36*	C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.3_Nonsense_Mutation_p.R36*|C1orf101_uc010pym.2_Intron|C1orf101_uc010pyn.2_Intron	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	36						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTTTAGTACCAGAAGTACTGT	0.294000														70			7		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192548279	192548279	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:192548279T>G	uc001gsi.1	+	4	523	c.457T>G	c.(457-459)Ttc>Gtc	p.F153V		NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	153	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CAATATTGACTTCCGCACTCG	0.338000														45			10		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135390458	135390458	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135390458A>T	uc003lbf.4	+	9	1479	c.1318A>T	c.(1318-1320)Att>Ttt	p.I440F	TGFBI_uc003lbg.4_Missense_Mutation_p.I173F|TGFBI_uc003lbh.4_Missense_Mutation_p.I266F|TGFBI_uc011cyb.2_Missense_Mutation_p.I266F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	440	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACCACATAATTAAAGACCA	0.448000														188			5		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066045	48066045	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48066045A>G	uc002rwe.3	-	3	613	c.540T>C	c.(538-540)gcT>gcC	p.A180A	FBXO11_uc010fbl.3_Silent_p.A96A|FBXO11_uc002rwg.2_Silent_p.A180A|FBXO11_uc021vhe.1_5'Flank	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	180	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TACATACACAAGCTGCTCTAC	0.378000			"""Mis, F, D"""		DLBCL									36			17		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971429	57971429	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57971429G>A	uc010rkb.2	-	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGTAGGCAAGGAAGAGATACA	0.443000														79			48		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132534888	132534888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:132534888G>A	uc003kyn.1	-	15	2646	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	FSTL4_uc003kym.1_Nonsense_Mutation_p.R459*	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	810						extracellular region	calcium ion binding	p.R810Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGACTCTCGGGCTGGTGTG	0.587000														10			10		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764596	92764596	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92764596T>G	uc003umh.1	-	4	1905	c.689A>C	c.(688-690)aAt>aCt	p.N230T	SAMD9L_uc003umj.1_Missense_Mutation_p.N230T|SAMD9L_uc003umi.1_Missense_Mutation_p.N230T|SAMD9L_uc010lfb.1_Missense_Mutation_p.N230T|SAMD9L_uc003umk.1_Missense_Mutation_p.N230T|SAMD9L_uc010lfc.1_Missense_Mutation_p.N230T|SAMD9L_uc010lfd.1_Missense_Mutation_p.N230T|SAMD9L_uc022ahh.1_Missense_Mutation_p.N230T	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	230										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTGCGTGAATTCATACAAGC	0.438000														74			16		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4091302	4091302	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4091302T>C	uc003smx.3	+	18	2890	c.2751T>C	c.(2749-2751)gcT>gcC	p.A917A	SDK1_uc010kso.3_Silent_p.A193A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	917	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCCGAGGCTGTCACTGTGG	0.522000														89			12		0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434515	62434515	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62434515T>A	uc001nug.1	+	2	974	c.715T>A	c.(715-717)Tct>Act	p.S239T	C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_3'UTR|METTL12_uc010rmc.1_Non-coding_Transcript	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.	239						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GATTCAAGGCTCTCATTAAAG	0.498000														107			10		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93624867	93624867	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:93624867A>C	uc003drb.4	-	4	808	c.467T>G	c.(466-468)tTt>tGt	p.F156C	PROS1_uc010hoo.3_Missense_Mutation_p.F25C|PROS1_uc003dqz.4_Missense_Mutation_p.F25C	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	156					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATACGTACCAAATTCACACTT	0.393000														65			36		0	0	1	0	0
TMEM138	51524	broad.mit.edu	37	11	61135396	61135396	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61135396A>C	uc010rli.2	+	4	860	c.301_splice	c.e4-1	p.N101_splice	TMEM138_uc021qke.1_Splice_Site|TMEM138_uc001nrl.2_Splice_Site_p.N101_splice	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	Homo sapiens transmembrane protein 138 (TMEM138), transcript variant 1, mRNA.	101						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTCCTTCAGAACTTACGCTGG	0.438000														252			17		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927726	23927726	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:23927726C>T	uc002nrk.4	-	3	768	c.626G>A	c.(625-627)gGa>gAa	p.G209E	ZNF681_uc002nrl.4_Missense_Mutation_p.G140E|ZNF681_uc002nrj.4_Missense_Mutation_p.G140E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GATTGAGGATCCATTAAAGGC	0.318000														9			3		0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54974212	54974212	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54974212A>C	uc002xxl.1	+	4	1035	c.835A>C	c.(835-837)Act>Cct	p.T279P	CSTF1_uc002xxm.1_Missense_Mutation_p.T279P|CSTF1_uc002xxn.1_Missense_Mutation_p.T279P	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	279					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding	p.V278I(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TATGTACGTAACTGGAAGCAA	0.403000														113			6		0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115177142	115177142	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:115177142A>C	uc003krh.3	-	0	407	c.108T>G	c.(106-108)tcT>tcG	p.S36S	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Silent_p.S83S	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	36					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CTGCAGCGGAAGACGGGGGCT	0.552000														28			13		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190903737	190903737	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:190903737C>T	uc011clg.2	-	3	1248	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	416					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										GACACCAAGTCGTTCATGTTG	0.537000														73			82		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394272	52394272	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52394272G>C	uc002pxy.3	-	4	1443	c.1117C>G	c.(1117-1119)Ccc>Gcc	p.P373A	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CATACAAAGGGAGTCTTTCCT	0.448000														61			27		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912138	150912138	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:150912138A>C	uc004fey.1	+	6	1387	c.1163A>C	c.(1162-1164)aAg>aCg	p.K388T		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	388					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)					TTCCAGGCTAAGATCGATGCC	0.502000														46			5		0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5159584	5159584	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5159584T>C	uc002wls.3	+	4	843	c.511T>C	c.(511-513)Ttt>Ctt	p.F171L	CDS2_uc002wlr.2_Missense_Mutation_p.F93L|CDS2_uc002wlw.3_Missense_Mutation_p.F51L|CDS2_uc002wlv.3_Missense_Mutation_p.F73L|CDS2_uc010zqv.2_5'UTR	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	171					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GTTCATTTCCTTTACTCTCTA	0.408000														77			26		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344694	56344694	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56344694G>A	uc001niz.1	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGGAGCCACAGAAGGATAAGT	0.468000														49			45		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766258	13766258	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13766258G>A	uc003jfd.2	-	58	9970	c.9928C>T	c.(9928-9930)Cgc>Tgc	p.R3310C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3310	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAACGTGCGAACAGTGGCG	0.522000									Kartagener syndrome					86			87		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135537838	135537838	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135537838G>A	uc004cbq.1	-	1	787	c.635C>T	c.(634-636)cCa>cTa	p.P212L	DDX31_uc010mzu.1_Missense_Mutation_p.P212L|DDX31_uc004cbr.1_Missense_Mutation_p.P212L|DDX31_uc004cbs.2_Missense_Mutation_p.P212L	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	212						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGGAGTTCTGGAATGTCAGG	0.433000														77			33		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165552335	165552335	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:165552335C>T	uc002ucp.3	-	11	1903	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	COBLL1_uc002ucq.3_Missense_Mutation_p.E523K|COBLL1_uc010zcw.2_Missense_Mutation_p.E628K|COBLL1_uc010zcx.2_Missense_Mutation_p.E569K|COBLL1_uc002ucn.3_5'UTR|COBLL1_uc002uco.3_Missense_Mutation_p.E292K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	599										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACAATTATTTCATTTTGAACT	0.299000														13			18		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485276	97485276	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:97485276C>T	uc001vmw.3	+	1	1264	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	414						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAAGATCTCTTCCAGCA	0.587000														51			22		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729643	196729643	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196729643G>A	uc002utj.4	-	40	6837	c.6736C>T	c.(6736-6738)Cat>Tat	p.H2246Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2246					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						AAAAGCTCATGAAAATCTTCA	0.398000														32			18		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117182070	117182070	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117182070G>A	uc003vjd.3	+	9	1249	c.1117_splice	c.e9-1	p.D373_splice	CFTR_uc011knq.2_Splice_Site	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	373					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTATAAATAGGATTTCTTACA	0.308000									Cystic Fibrosis					14			13		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215298009	215298009	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:215298009C>T	uc001hkq.3	+	2	560	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S	KCNK2_uc001hko.3_Missense_Mutation_p.P127S|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Intron|KCNK2_uc010pua.1_Intron|KCNK2_uc001hkr.4_Missense_Mutation_p.P116S	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	131							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AGGGATTATACCGTTAGGAAA	0.383000														116			23		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675428	100675428	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100675428G>A	uc003uxp.1	+	2	784	c.731G>A	c.(730-732)aGc>aAc	p.S244N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	244	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTGAAATCAGCACACCTGTG	0.493000														133			118		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154016	248154016	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248154016G>A	uc001idv.1	+	0	448	c.204G>A	c.(202-204)atG>atA	p.M68I	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						GATCTTGGATGATAGGCTCCA	0.438000														67			20		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936876	4936876	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4936876C>T	uc001lzr.1	-	0	18	c.18G>A	c.(16-18)ctG>ctA	p.L6L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCCAGGGATCCCA	0.557000														22			19		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113034	40113034	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:40113034T>G	uc002xka.1	-	14	2393	c.2215A>C	c.(2215-2217)Atg>Ctg	p.M739L	CHD6_uc002xkd.2_Missense_Mutation_p.M717L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	739					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin 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)				CTCAGCTCCATCATGGTGTTG	0.493000														166			6		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170589	53170589	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53170589T>C	uc001sax.3	-	0	541	c.487A>G	c.(487-489)Agt>Ggt	p.S163G		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	163	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAGGAGACTCTGGTTTACA	0.562000														23			4		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30134986	30134986	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30134986A>C	uc010jrx.3	+	1	894	c.415A>C	c.(415-417)Acg>Ccg	p.T139P		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	139					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGCTCTGAGCACGGAGAGAGA	0.458000														24			19		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105763182	105763182	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105763182A>G	uc001kxo.1	+	8	2280	c.2246A>G	c.(2245-2247)gAt>gGt	p.D749G	SLK_uc001kxp.1_Missense_Mutation_p.D749G	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	749					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AATGATAATGATTCAGGCACT	0.348000														29			12		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768553	138768553	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138768553T>G	uc003vun.3	-	2	1058	c.670A>C	c.(670-672)Atg>Ctg	p.M224L	ZC3HAV1_uc003vup.3_Missense_Mutation_p.M224L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	224	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCTTCTGCATGTGCTTGCTG	0.478000														58			22		0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217579	26217579	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26217579A>C	uc003nha.1	+	0	432	c.377A>C	c.(376-378)aAg>aCg	p.K126T	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ae (HIST1H2AE), mRNA.	126					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGCCACCATAAGGCCAAGGGC	0.522000														45			7		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205812794	205812795	+	Splice_Site	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205812794_205812795CC>TT	uc001hdj.3	-	6	903	c.827_splice	c.e6+1	p.R276_splice	PM20D1_uc009xbr.3_Splice_Site	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	276						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGTTGCTTACCGGCTGACAGC	0.515000														64			16		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101549061	101549061	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:101549061C>T	uc002bwr.3	+	6	1101	c.782C>T	c.(781-783)tCc>tTc	p.S261F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	261					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAAATGGTCCCATCTCAGA	0.552000											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			12		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47597918	47597918	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47597918A>G	uc003gxm.3	-	21	3042	c.2949T>C	c.(2947-2949)ggT>ggC	p.G983G	CORIN_uc011bzf.2_Silent_p.G844G|CORIN_uc011bzg.2_Silent_p.G916G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	983	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACCGCTGTCACCCTGCAATA	0.483000														28			4		0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231049	1231049	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1231049G>A	uc002lrm.2	-	8	1462	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	432						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGAAGGGGGGCAAGGGCC	0.716000										HNSCC(14;0.022)				46			12		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641082	121641082	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121641082G>A	uc003eep.2	+	7	866	c.713G>A	c.(712-714)gGa>gAa	p.G238E	SLC15A2_uc011bjn.1_Missense_Mutation_p.G207E	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	238					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTTGCAATGGGAAGCAAAATA	0.363000														2			73		0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76549581	76549581	+	Silent	SNP	C	T	T	rs142020645		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:76549581C>T	uc001xsg.2	+	6	505	c.471C>T	c.(469-471)atC>atT	p.I157I	IFT43_uc010asm.1_Silent_p.I152I|IFT43_uc010tve.2_Non-coding_Transcript	NM_052873	NP_443105	Q96FT9	IFT43_HUMAN	Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 1, mRNA.	152					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGGGAGATCGACCTGAAAC	0.532000														20			13		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852481	137852481	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:137852481C>T	uc002tva.1	+	2	896	c.896C>T	c.(895-897)tCc>tTc	p.S299F	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S189F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGTTCAGTCCTGCATCATG	0.463000														71			26		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005611	123005611	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123005611T>C	uc003egh.2	-	19	3578	c.3578A>G	c.(3577-3579)aAg>aGg	p.K1193R	ADCY5_uc021xdd.1_Missense_Mutation_p.K843R|ADCY5_uc003egg.2_Missense_Mutation_p.K851R	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1193	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTACTGAGGCTTTCGTGCCCC	0.622000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			11		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26886107	26886107	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:26886107A>G	uc003jgs.1	-	9	1767	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	CDH9_uc011cnv.1_Missense_Mutation_p.L126P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	533	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T532S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTCGGATTGAGAGTAAATTC	0.313000														125			36		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149760122	149760122	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:149760122G>A	uc001esp.4	+	3	558	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	170	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCATTGCTCAGGCATGGGAAA	0.428000														41			44		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42286793	42286793	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42286793T>G	uc010czs.3	-	16	2128	c.1832A>C	c.(1831-1833)cAg>cCg	p.Q611P	UBTF_uc002igc.3_Missense_Mutation_p.Q574P|UBTF_uc002igd.3_Missense_Mutation_p.Q574P|UBTF_uc010czt.3_Missense_Mutation_p.Q611P|UBTF_uc002ige.2_Missense_Mutation_p.Q574P	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	611					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTGCTCCTTCTGGCTCTGGGA	0.597000														39			4		0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10416140	10416140	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10416140G>A	uc002mnw.4	-	2	1500	c.624C>T	c.(622-624)tcC>tcT	p.S208S	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	208					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGTCCGACAGGAAGCACAGC	0.622000														3			4		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114515828	114515828	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114515828T>C	uc001eem.3	+	15	3488	c.3327T>C	c.(3325-3327)gcT>gcC	p.A1109A	HIPK1_uc001een.3_Silent_p.A1109A|HIPK1_uc001eeo.3_Silent_p.A735A|HIPK1_uc001eep.3_Silent_p.A715A|HIPK1_uc001eeq.3_Silent_p.A401A	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCAGGCTCATCTGTATA	0.612000														192			17		0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103802254	103802254	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:103802254C>T	uc001ymt.3	+	1	552	c.57C>T	c.(55-57)ccC>ccT	p.P19P	EIF5_uc001ymq.3_Silent_p.P19P|EIF5_uc001ymr.3_Silent_p.P19P|EIF5_uc001ymu.3_Silent_p.P19P|SNORA28_uc001ymv.1_5'Flank	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	19					RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			ACAAGATGCCCCGTCTGATTG	0.393000														129			37		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149041	242149041	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242149041C>T	uc002wax.2	+	12	1615	c.1512C>T	c.(1510-1512)atC>atT	p.I504I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	504						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGTGGTGATCGTGGTGATGG	0.672000														26			22		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95951398	95951398	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95951398C>T	uc002suk.3	+	15	2020	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	PROM2_uc002suh.2_Silent_p.P629P|PROM2_uc002sui.3_Silent_p.P629P|PROM2_uc002suj.3_Silent_p.P283P|PROM2_uc002sul.3_Silent_p.P155P|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	629						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCAGAGGCCCGTGGTGAAGA	0.652000														4			8		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507751	28507751	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28507751A>T	uc002dqb.2	+	1	1422	c.1389A>T	c.(1387-1389)gtA>gtT	p.V463V	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	454	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGGCCAGGTAGACCTGCGTG	0.637000														41			15		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138635060	138635060	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:138635060T>G	uc003qhu.3	+	25	4500	c.4329T>G	c.(4327-4329)gaT>gaG	p.D1443E		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1443					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCTGTCTGATTTTGATGATG	0.428000														11			7		0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18931299	18931299	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:18931299C>T	uc002yki.3	+	3	645	c.421C>T	c.(421-423)Cct>Tct	p.P141S	CXADR_uc002ykh.2_Missense_Mutation_p.P141S|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.P141S|CXADR_uc002ykj.2_Missense_Mutation_p.P141S	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	141	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TTCAGTTAAGCCTTCAGGTGC	0.333000														27			17		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030380	95030380	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95030380G>A	uc010avd.3	+	1	946	c.672G>A	c.(670-672)aaG>aaA	p.K224K	SERPINA4_uc001ydk.3_Silent_p.K187K|SERPINA4_uc001ydl.3_Silent_p.K187K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	187					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCACGTCAAGAAGGAAACTC	0.463000														166			17		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299903	103299903	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:103299903C>T	uc002tca.3	+	3	1330	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	396						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCGTCTGCTTCACCCTGGCCT	0.502000														21			32		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233398769	233398769	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:233398769C>T	uc001hvl.2	-	1	529	c.294G>A	c.(292-294)aaG>aaA	p.K98K		NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	98						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTTTTCTTCCTTTCTGGAGG	0.368000														56			36		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68171011T>A	uc001ont.3	+	7	1720	c.1645T>A	c.(1645-1647)Ttt>Att	p.F549I	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	549	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597000														60			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466414	179466414	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179466414T>A	uc021vsy.1	-	234	47924	c.47699A>T	c.(47698-47700)aAg>aTg	p.K15900M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K9595M|TTN_uc021vta.1_Missense_Mutation_p.K9528M|TTN_uc021vtb.1_Missense_Mutation_p.K9403M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16827	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGCAGTCTTTTGTCCTGC	0.358000														42			16		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541767	55541767	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55541767C>T	uc010ril.2	+	0	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTGGCGATTCCAATGCTGAAC	0.363000														22			23		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338606	186338607	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186338606_186338607GG>AT	uc003fqk.4	+	6	1072_1073	c.991_992GG>AT	c.(991-993)gga>ATa	p.G331I		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	331					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTCACCCTCAGGAGAAGTGTCG	0.614000														54			132		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157789804	157789804	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157789804C>T	uc001frg.3	-	0	137	c.24G>A	c.(22-24)ttG>ttA	p.L8L	FCRL1_uc001frh.3_Silent_p.L8L|FCRL1_uc001fri.3_Silent_p.L8L|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	8						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACCACAGATCAACAGCAACA	0.527000														49			12		0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99511774	99511774	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:99511774C>T	uc002bum.3	-	4	824	c.524G>A	c.(523-525)gGa>gAa	p.G175E	PGPEP1L_uc010bop.3_3'UTR|PGPEP1L_uc002bun.3_Missense_Mutation_p.G121E	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	175					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CTTGGGCTTTCCCACCTCTTC	0.562000														12			10		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463628	26463628	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:26463628A>G	uc001mqt.4	+	1	355	c.210A>G	c.(208-210)atA>atG	p.I70M	ANO3_uc010rdr.2_Missense_Mutation_p.I54M	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	70						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCACATCTATAACCTTAATCT	0.448000														126			30		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106547271	106547271	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:106547271G>A	uc003prd.2	+	3	742	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PRDM1_uc003pre.3_Missense_Mutation_p.E36K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	170	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTCTCCCCGGGAGCAAAACCT	0.498000			"""D, N, Mis, F, S"""		DLBCL									4			41		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349891	21349891	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21349891A>C	uc001req.4	+	7	843	c.739A>C	c.(739-741)Ata>Cta	p.I247L		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	247					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACTATCAGGATAACTCCTAC	0.353000														29			28		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51201137	51201137	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51201137C>T	uc002psx.1	-	11	1843	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	608	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCACTTCTTCCAGGCAGTCAG	0.567000														21			12		0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131729899	131729899	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131729899A>C	uc003kwx.4	+	10	1945	c.1681A>C	c.(1681-1683)Agt>Cgt	p.S561R	SLC22A5_uc003kww.4_Missense_Mutation_p.S537R	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	537					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AAAAACTCCAAGTCACACAAG	0.378000														31			11		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180017712	180017712	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180017712C>T	uc001gnt.3	+	21	5047	c.4664C>T	c.(4663-4665)cCa>cTa	p.P1555L	CEP350_uc009wxl.2_Missense_Mutation_p.P1554L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1555	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCTTCAGTTCCATCTTGTAAG	0.368000														35			30		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584383	88584383	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88584383G>A	uc003hqv.3	+	5	1557	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	DMP1_uc003hqw.3_Missense_Mutation_p.E469K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	485					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAAAAACATTGAGATAGAGAG	0.463000														99			40		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864524	131864524	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:131864524C>T	uc003vra.4	-	19	4025	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1266						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGTCACTTTCGCGGGACTTG	0.612000														30			23		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24498660	24498660	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24498660T>C	uc002rfe.2	-	17	2261	c.2003A>G	c.(2002-2004)aAa>aGa	p.K668R	ITSN2_uc002rff.2_Missense_Mutation_p.K641R|ITSN2_uc002rfg.3_Missense_Mutation_p.K668R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	668					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTCACGTTTGATCTTATA	0.333000														11			18		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130269290	130269290	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130269290G>A	uc004brh.3	-	13	2277	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	FAM129B_uc004bri.3_Missense_Mutation_p.S679L|FAM129B_uc004brj.4_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	692							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCAGGCGGCGAGGAGGCCTC	0.721000														10			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871682	13871682	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13871682G>A	uc003jfd.2	-	22	3631	c.3589C>T	c.(3589-3591)Ctg>Ttg	p.L1197L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1197	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTGTACAGAGCAATGGAA	0.383000									Kartagener syndrome					30			48		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39560824	39560824	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39560824A>G	uc001wup.1	-	4	683	c.460T>C	c.(460-462)Tca>Cca	p.S154P	SEC23A_uc010tqa.1_Missense_Mutation_p.S16P|SEC23A_uc010tqb.1_Missense_Mutation_p.S125P|SEC23A_uc010tqc.1_Missense_Mutation_p.S16P	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	154					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGACTTAATGACATCTGCATG	0.393000														53			15		0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4345113	4345113	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:4345113A>C	uc011asp.2	+	0	126	c.59A>C	c.(58-60)aAg>aCg	p.K20T	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.K7T|SETMAR_uc011asq.2_Missense_Mutation_p.K20T|SETMAR_uc003bpy.4_5'UTR|SETMAR_uc011asr.2_5'UTR|SETMAR_uc010hbx.3_5'Flank	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	7	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTTAAGGAGAAGCCTGAGGCC	0.672000								Chromatin Structure						16			5		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37617678G>A	uc002yvg.3	+	18	3479	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N	DOPEY2_uc011aeb.2_Missense_Mutation_p.D1083N|DOPEY2_uc002yvh.3_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1134					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTCCCACGACCTGCAGGA	0.662000														54			53		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32777991	32777991	+	Missense_Mutation	SNP	T	C	C	rs150746174		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32777991T>C	uc010ske.2	+	12	2044	c.1960T>C	c.(1960-1962)Tca>Cca	p.S654P	FGD4_uc001rlc.3_Missense_Mutation_p.S627P|FGD4_uc001rky.3_Missense_Mutation_p.S294P|FGD4_uc001rkz.3_Missense_Mutation_p.S542P|FGD4_uc001rla.3_Missense_Mutation_p.S198P|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	542	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGACATTCACTCAGAGGTTTC	0.343000														53			19		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450446	55450446	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55450446C>A	uc002qih.4	-	3	1817	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	NLRP7_uc010esk.3_Nonsense_Mutation_p.E581*|NLRP7_uc002qig.4_Nonsense_Mutation_p.E581*|NLRP7_uc002qii.4_Nonsense_Mutation_p.E581*|NLRP7_uc010esl.3_Nonsense_Mutation_p.E609*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	581							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCAGCTCCTCCTCCTGAGAC	0.493000														59			30		3.90053e-15	3.92567e-15	1	1	0
APOL3	80833	broad.mit.edu	37	22	36537811	36537811	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36537811T>C	uc003aot.3	-	2	684	c.646A>G	c.(646-648)Agt>Ggt	p.S216G	APOL3_uc003aoq.3_Missense_Mutation_p.S145G|APOL3_uc003aor.3_Missense_Mutation_p.S145G|APOL3_uc003aos.3_Missense_Mutation_p.S145G|APOL3_uc003aou.3_Missense_Mutation_p.S16G|APOL3_uc003aov.3_Missense_Mutation_p.S16G|APOL3_uc021wol.1_Missense_Mutation_p.S16G	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	216					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGGGCCAGACTCGTCCCTGCT	0.577000														32			6		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9613338	9613338	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:9613338C>T	uc010cod.3	+	12	2077	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	USP43_uc002gma.4_Nonsense_Mutation_p.R382*|USP43_uc010vva.2_Nonsense_Mutation_p.R688*|USP43_uc010coe.3_Nonsense_Mutation_p.R490*|USP43_uc002gmc.4_Nonsense_Mutation_p.R205*	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	693					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGAACCGCTTCGAGAAGATGA	0.542000														6			52		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692973	135692973	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135692973C>T	uc003lbn.2	-	1	325	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TRPC7_uc010jef.2_Missense_Mutation_p.E26K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.E35K|TRPC7_uc010jei.2_Missense_Mutation_p.E35K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	35					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGCCCTTCTCGTTGAACATG	0.612000														45			39		0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55251726	55251726	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55251726G>A	uc009vzt.1	-	4	1055	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TTC22_uc001cxz.4_Missense_Mutation_p.T317I	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	317							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CATGTTGCAGGTTCCAATGGC	0.532000														33			33		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120381845	120381845	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120381845G>A	uc010oxk.2	-	4	1421	c.800C>T	c.(799-801)tCt>tTt	p.S267F		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	267	NBPF 1.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TTCATCTTGAGAAGATTCACT	0.433000														68			46		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404475	20404475	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20404475C>T	uc001vwj.2	+	0	709	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTAATTATTTCCTACACCATC	0.433000														35			17		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25485643	25485643	+	Missense_Mutation	SNP	G	A	A	rs143892728		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:25485643G>A	uc002wux.1	-	5	663	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NINL_uc010gdn.1_Missense_Mutation_p.P197S|NINL_uc010gdo.1_Missense_Mutation_p.P37S|NINL_uc010ztf.1_Missense_Mutation_p.P213S	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	197	EF-hand 3.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGCTCTCTGGGGTGTCAAAG	0.637000														17			16		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117632191	117632191	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117632191G>A	uc003pxp.1	-	38	6424	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2075	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.F2075F(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCTGTGAATGAAATGCATCC	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									1			20		0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580486	77580486	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77580486A>G	uc001xtd.3	+	3	1204	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R	KIAA1737_uc001xtc.1_Missense_Mutation_p.Q244R	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	342										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TTGATTCGTCAGAATCAGGCA	0.493000														51			10		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127951860	127951860	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127951860A>T	uc010mwv.3	-	0	359	c.138T>A	c.(136-138)ctT>ctA	p.L46L	PPP6C_uc004bpg.4_Intron|PPP6C_uc010mww.3_Intron|PPP6C_uc011lzr.2_Intron	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	25					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GTCCTGGAGAAAGGAAgggcc	0.706000														11			4		0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41266174	41266174	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:41266174T>C	uc003gvo.3	+	7	677	c.581T>C	c.(580-582)cTg>cCg	p.L194P	UCHL1_uc003gvp.3_Missense_Mutation_p.L113P	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	194					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GACACCCTGCTGAAGGTCATC	0.433000														98			11		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738771	87738771	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87738771T>G	uc003ydx.3	-	2	374	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	109					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTTGGACCTTCTTTCCCGGG	0.448000														96			105		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57132702	57132702	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57132702C>T	uc002qnm.4	+	2	285	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ZNF71_uc021vcg.1_Missense_Mutation_p.S16F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	16						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GACAAGCTCTCCGTTGTTGGG	0.532000														71			27		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365327	35365327	+	Silent	SNP	G	A	A	rs147456536		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35365327G>A	uc001byc.3	-	2	1329	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	443					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGGATCCGGGGTGGGACAC	0.597000														76			76		0	0	1	0	0
BST2	684	broad.mit.edu	37	19	17514996	17514996	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17514996C>T	uc002ngl.3	-	2	355	c.355G>A	c.(355-357)Gag>Aag	p.E119K	AK311380_uc010eat.1_5'Flank|AK311380_uc002ngm.1_5'Flank	NM_004335	NP_004326	Q10589	BST2_HUMAN	Homo sapiens bone marrow stromal cell antigen 2 (BST2), mRNA.	119					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|anchored to membrane|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GTAGTGATCTCTCCTGGTAGG	0.597000														4			3		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27425379	27425379	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:27425379T>C	uc002hdt.1	-	23	4023	c.3865A>G	c.(3865-3867)Agc>Ggc	p.S1289G	MYO18A_uc010wbc.1_Missense_Mutation_p.S831G|MYO18A_uc002hds.2_Missense_Mutation_p.S831G|MYO18A_uc010csa.1_Missense_Mutation_p.S1289G|MYO18A_uc002hdu.1_Missense_Mutation_p.S1289G|MYO18A_uc010wbd.1_Missense_Mutation_p.S958G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1289					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCACCCGGCTCTCCAGCCGG	0.647000														50			17		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197431411	197431411	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197431411A>G	uc003fyc.2	-	4	646	c.463_splice	c.e4+1	p.D155_splice	KIAA0226_uc003fyd.3_Splice_Site_p.D95_splice|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_Splice_Site|KIAA0226_uc003fyg.3_Splice_Site_p.D148_splice	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	155	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCCTCTACCTACCTGTGTAGA	0.542000														204			28		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293584	27293584	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:27293584A>C	uc010jqt.3	+	0	1045	c.523A>C	c.(523-525)Aga>Cga	p.R175R		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		ATTGCATCAAAGAAATCCTGA	0.333000														17			4		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25622137	25622137	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:25622137A>T	uc011awl.2	+	4	797	c.731A>T	c.(730-732)aAa>aTa	p.K244I	RARB_uc003cdi.2_Missense_Mutation_p.K125I|RARB_uc003cdh.3_Missense_Mutation_p.K237I	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	244	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGTTTGCTAAACGTCTGCCT	0.517000														45			21		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81660752	81660752	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81660752T>A	uc001szo.2	-	29	3692	c.3531A>T	c.(3529-3531)ggA>ggT	p.G1177G	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.G1076G|PPFIA2_uc021rbh.1_Silent_p.G1072G|PPFIA2_uc021rbi.1_Silent_p.G1171G|PPFIA2_uc021rbj.1_Silent_p.G1156G|PPFIA2_uc021rbk.1_Silent_p.G1162G|PPFIA2_uc021rbl.1_Silent_p.G1177G|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.G713G|PPFIA2_uc021rbf.1_Silent_p.G363G	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1077										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						GCCTTTCAGTTCCCAGGGCCA	0.358000														2			10		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068652	5068652	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5068652G>A	uc010qyv.2	+	0	897	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q299H(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACCAAACAGATTCGAGAAC	0.378000														27			31		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435213	7435213	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:7435213T>C	uc011bwj.2	-	0	1488	c.1394A>G	c.(1393-1395)aAg>aGg	p.K465R	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	465	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGCCCCCACCTTCTTGCACAC	0.637000														6			5		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323222	29323222	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29323222A>T	uc011dlo.2	-	0	833	c.751T>A	c.(751-753)Ttt>Att	p.F251I		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCATAAAAGAGAAAGACA	0.448000														67			19		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40362043	40362043	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:40362043A>G	uc003ayh.2	+	4	603	c.340A>G	c.(340-342)Aat>Gat	p.N114D	GRAP2_uc011aom.2_Missense_Mutation_p.N88D|GRAP2_uc011aon.2_Missense_Mutation_p.N48D|GRAP2_uc010gya.2_Missense_Mutation_p.N114D|GRAP2_uc011aoo.2_Missense_Mutation_p.N42D|GRAP2_uc011aop.2_Missense_Mutation_p.N74D|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Missense_Mutation_p.N114D	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	114	SH2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAACAAGGGTAATTACTTTCT	0.423000														52			51		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158978118	158978118	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:158978118G>A	uc002tzo.3	+	6	843	c.823G>A	c.(823-825)Gat>Aat	p.D275N	UPP2_uc002tzp.3_Missense_Mutation_p.D218N	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	218					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTGTACCTATGATTTTTATGA	0.353000														36			20		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695781	52695781	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:52695781C>T	uc010snq.2	+	1	214	c.81C>T	c.(79-81)atC>atT	p.I27I	KRT86_uc009zmg.3_Silent_p.I27I|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Silent_p.I27I	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	27	Head.				cytoskeleton organization	keratin filament	structural molecule activity	p.C26*(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTGCATCACCGCCGCCC	0.692000														21			14		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757067	757067	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:757067A>G	uc002lpo.3	+	1	204	c.121A>G	c.(121-123)Agc>Ggc	p.S41G		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	41										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGAGGCCAGCGGCTGGGG	0.672000														24			9		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016396	141016396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:141016396C>T	uc004cog.3	+	45	7104	c.6959C>T	c.(6958-6960)tCg>tTg	p.S2320L	CACNA1B_uc022bqn.1_3'UTR|CACNA1B_uc004coi.3_Missense_Mutation_p.S1534L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2322					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)	GGACTCAGCTCGGGTGGCCGA	0.657000														23			23		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41280772	41280772	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:41280772T>C	uc010hia.1	+	15	2441	c.2285T>C	c.(2284-2286)cTc>cCc	p.L762P	CTNNB1_uc003ckq.2_Missense_Mutation_p.L762P|CTNNB1_uc003ckp.2_Missense_Mutation_p.L762P|CTNNB1_uc003ckr.2_Missense_Mutation_p.L762P|CTNNB1_uc011azf.1_Missense_Mutation_p.L755P|CTNNB1_uc011azg.1_Missense_Mutation_p.L690P	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	762					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCCCAGGACCTCATGGATGGG	0.522000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					26			10		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148368	69148368	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:69148368G>A	uc010cfh.3	+	3	1085	c.861G>A	c.(859-861)ttG>ttA	p.L287L	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Silent_p.L287L	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	287					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGGGCCCTTGGGCATGTACC	0.587000														4			43		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171320939	171320939	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:171320939A>C	uc003fhs.3	-	26	3501	c.3154T>G	c.(3154-3156)Ttg>Gtg	p.L1052V	PLD1_uc003fht.3_Missense_Mutation_p.L1014V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	1052					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCTTCAGACAAGAAATAAAAG	0.443000														120			16		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834567	61834568	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61834567_61834568GG>AA	uc001jky.3	-	36	6409_6410	c.6071_6072CC>TT	c.(6070-6072)tcc>tTT	p.S2024F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2024					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S2024F(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCCTTTTCGGAGGCGGCTTT	0.416000														20			29		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620085	40620085	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40620085A>G	uc002hzs.3	+	3	421	c.254A>G	c.(253-255)aAc>aGc	p.N85S	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.N85S|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.N85S|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.N85S|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.N85S|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_5'Flank|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.N85S	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	85					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ACCGGTGAAAACCCAGAGGTT	0.398000														38			19		0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420310	74420310	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:74420310G>A	uc001vjf.3	-	3	546	c.324C>T	c.(322-324)tcC>tcT	p.S108S	KLF12_uc010aeq.3_Silent_p.S108S|KLF12_uc001vjg.3_Silent_p.S108S	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	108					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAGAAGGTGAGGAGGCAGATG	0.483000														33			10		0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74449797	74449797	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74449797T>G	uc010tuo.2	-	5	676	c.365A>C	c.(364-366)aAg>aCg	p.K122T	ENTPD5_uc001xpi.3_Missense_Mutation_p.K122T	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	122					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CACTGGGGTCTTTTTCCAGTG	0.488000														211			7		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38305217	38305217	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:38305217T>C	uc003tge.1	-	4	867	c.490A>G	c.(490-492)Aca>Gca	p.T164A	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGAGCTTTGTTTCAGCAATT	0.363000														285			5		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090869	143090869	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:143090869A>C	uc003qjd.3	-	4	5750	c.5007T>G	c.(5005-5007)gtT>gtG	p.V1669V		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1668W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATGAAGCATAAACCGAGGATT	0.453000														71			6		0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929424	4929424	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4929424C>T	uc002mbp.3	+	1	676	c.383C>T	c.(382-384)gCc>gTc	p.A128V	UHRF1_uc002mbo.3_Missense_Mutation_p.A115V|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	115					DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A127S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGCGGCCGCCGAGACTGAC	0.652000														22			30		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25589753	25589753	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:25589753G>A	uc002kwg.2	-	4	1089	c.630C>T	c.(628-630)ttC>ttT	p.F210F	CDH2_uc010xbn.1_Silent_p.F179F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	210	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTTGATAATGAAGATACCAG	0.493000														48			22		0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16220024	16220024	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16220024A>C	uc002gpv.3	+	4	556	c.524A>C	c.(523-525)aAa>aCa	p.K175T	PIGL_uc010vwd.2_Missense_Mutation_p.K175T	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		AAGTTACCTAAAGGTAAGGCT	0.502000														66			10		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78357683	78357683	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78357683A>C	uc002jyh.2	+	59	14567	c.14424A>C	c.(14422-14424)aaA>aaC	p.K4808N	RNF213_uc021uen.1_Missense_Mutation_p.K4759N|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGAACAGAAAAATGGCAAAG	0.512000														59			25		0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563839	156563839	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156563839C>T	uc001fph.3	+	5	869	c.830C>T	c.(829-831)cCc>cTc	p.P277L	APOA1BP_uc001fpi.3_Silent_p.T258T|APOA1BP_uc001fpk.3_Missense_Mutation_p.P174L|APOA1BP_uc010php.1_Missense_Mutation_p.P174L	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	277						extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCTGCCACCCTACCCTGAC	0.532000														82			12		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282747	77282747	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77282747G>A	uc004aji.3	+	7	1123	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	RORB_uc004ajh.3_Silent_p.K347K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	358	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTTTGCAAAGAATTTGTGTT	0.398000														52			21		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048308	105048308	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105048308A>G	uc001kws.3	+	2	1431	c.1382A>G	c.(1381-1383)aAg>aGg	p.K461R		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	461	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GTAGCCTCTAAGAAAACCTCC	0.418000														21			18		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933417	127933417	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127933417T>G	uc010mwv.3	-	2	450	c.229A>C	c.(229-231)Aat>Cat	p.N77H	PPP6C_uc004bpg.4_Missense_Mutation_p.N40H|PPP6C_uc010mww.3_Missense_Mutation_p.N40H|PPP6C_uc011lzr.2_5'UTR	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	40					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GGCTGAACATTTGACTCTTCT	0.348000														107			28		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36026318	36026318	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:36026318G>A	uc021rid.1	+	39	6928	c.6394G>A	c.(6394-6396)Gga>Aga	p.G2132R	NBEA_uc021ric.1_Missense_Mutation_p.G2129R|NBEA_uc010abi.3_Missense_Mutation_p.G788R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2132						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATGCTGGAAGGAGACGATGA	0.353000														17			5		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150906239	150906239	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:150906239G>A	uc003eyp.3	+	11	1854	c.1725G>A	c.(1723-1725)agG>agA	p.R575R	MED12L_uc011bnz.2_Silent_p.R435R|MED12L_uc003eyn.3_Silent_p.R575R|MED12L_uc003eyo.3_Silent_p.R575R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	575					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCTGTTAAGGTTTTTAGATA	0.373000														5			74		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789222	111789222	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:111789222G>A	uc010yxk.1	+	14	1524	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	ACOXL_uc021vmm.1_Missense_Mutation_p.D287N|ACOXL_uc021vmn.1_Missense_Mutation_p.D257N	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	464					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CAAGAAGGAGGATTTTTTCCA	0.453000														48			18		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770985	43770985	+	Missense_Mutation	SNP	A	C	C	rs45495994		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43770985A>C	uc001ciu.3	+	2	632	c.455A>C	c.(454-456)aAg>aCg	p.K152T	TIE1_uc010okd.2_Missense_Mutation_p.K152T|TIE1_uc010oke.2_Missense_Mutation_p.K107T|TIE1_uc009vwq.3_Missense_Mutation_p.K152T|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010okb.2_Missense_Mutation_p.K152T|TIE1_uc010okc.2_Missense_Mutation_p.K152T	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	152					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.K152R(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACAAGGAGAAGCAGACAGAC	0.557000														17			9		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92007443	92007443	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:92007443G>C	uc004aqo.1	-	9	1089	c.517C>G	c.(517-519)Ctt>Gtt	p.L173V	SEMA4D_uc011ltm.1_Missense_Mutation_p.L173V|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.L173V	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	173	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCCGAATAAAGTTCTCCATCT	0.478000														26			9		0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27598827	27598827	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27598827A>G	uc002rkg.1	+	10	1315	c.1093A>G	c.(1093-1095)Act>Gct	p.T365A	SNX17_uc010ylj.1_Missense_Mutation_p.T345A|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.T151A|SNX17_uc010yll.1_Missense_Mutation_p.T151A|SNX17_uc010ylm.1_Missense_Mutation_p.T151A|SNX17_uc010yln.1_Missense_Mutation_p.T353A|SNX17_uc010ylo.1_Missense_Mutation_p.T283A|SNX17_uc010ylp.1_Missense_Mutation_p.T340A|SNX17_uc010ylk.1_Missense_Mutation_p.T151A|SNX17_uc010eza.1_Missense_Mutation_p.T151A|SNX17_uc010ylq.1_Missense_Mutation_p.T151A	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	365					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCACCATCACTAGCCCCCA	0.582000														55			5		0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36929287	36929287	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36929287G>A	uc021yzd.1	+	3	677	c.454G>A	c.(454-456)Ggt>Agt	p.G152S	PI16_uc003omz.1_Missense_Mutation_p.G152S|PI16_uc003ona.3_Missense_Mutation_p.G152S|PI16_uc011dts.1_5'UTR	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	152						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGCTCCAGGGTGTTGAGGA	0.582000														94			65		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108691315	108691315	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:108691315G>A	uc022cch.1	-	4	1637	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P518S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	518					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAAAGTGGGGATTGATAAAC	0.413000														0			36		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269664	1269664	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1269664A>G	uc001lta.3	+	30	11613	c.11554A>G	c.(11554-11556)Acc>Gcc	p.T3852A		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3852	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCTGTGGCCACCCCCTCTTC	0.642000														127			6		0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103841347	103841347	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103841347T>G	uc003vcb.3	-	2	368	c.225A>C	c.(223-225)caA>caC	p.Q75H	ORC5_uc011klp.2_5'UTR|ORC5_uc003vcc.3_Missense_Mutation_p.Q75H	NM_002553	NP_002544	O43913	ORC5_HUMAN	Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.	75					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGTTTAAAATTTGTTCCAAAA	0.333000														18			4		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343158	48343158	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48343158C>T	uc002phq.4	+	3	1038	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	278					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTGGAAATTCACCTACAATC	0.577000														115			75		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149484645	149484645	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149484645C>T	uc010lpk.3	+	23	3568	c.3568C>T	c.(3568-3570)Ccc>Tcc	p.P1190S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1190	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGCCACACCCCTGCACGGT	0.697000														8			6		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81851606	81851606	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81851606C>T	uc001szo.2	-	4	504	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E41K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E41K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E115K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E115K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E97K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E115K|PPFIA2_uc010sue.2_Missense_Mutation_p.E15K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	41										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						AGAAGTTGTTCCCTGCAGGCA	0.303000														2			8		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744381	17744381	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:17744381A>C	uc011mix.2	+	6	2493	c.2155A>C	c.(2155-2157)Agt>Cgt	p.S719R	NHS_uc004cxx.3_Missense_Mutation_p.S698R|NHS_uc004cxy.3_Missense_Mutation_p.S542R|NHS_uc004cxz.3_Missense_Mutation_p.S521R|NHS_uc004cya.3_Missense_Mutation_p.S421R	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	698						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCAACACAAGTGACAGTGA	0.532000														112			18		0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56172554	56172554	+	Splice_Site	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56172554A>T	uc002qlu.3	+	5	1541	c.486_splice	c.e5+1	p.E162_splice	U2AF2_uc002qlt.3_Splice_Site_p.E162_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	162	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGCATCACTGAGGTActgccc	0.647000														32			4		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138313035	138313035	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138313035C>T	uc011kqh.2	-	9	937	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	SVOPL_uc003vue.3_Missense_Mutation_p.G161S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	313						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GACTTTGAACCACAGACCAAG	0.557000														23			25		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168135060	168135060	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:168135060G>A	uc010jjg.3	-	25	3206	c.2786C>T	c.(2785-2787)tCc>tTc	p.S929F	SLIT3_uc003mab.3_Missense_Mutation_p.S922F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	922	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.G929W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACGGGCTGGAGAGGCAGGC	0.592000														20			17		0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937285	90937285	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:90937285A>C	uc003yeh.3	+	5	1435	c.1175A>C	c.(1174-1176)aAg>aCg	p.K392T	OSGIN2_uc003yeg.3_Missense_Mutation_p.K348T	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	348					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCCCAAAAAGCTGTATCCT	0.383000														61			25		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89851007	89851007	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89851007A>T	uc001dnf.2	+	10	2155	c.1881A>T	c.(1879-1881)aaA>aaT	p.K627N	GBP6_uc010ost.1_Missense_Mutation_p.K497N	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	627							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CACTCTTTAAAAAGCATAAGC	0.358000														39			9		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36948630	36948630	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36948630T>G	uc002xib.2	+	6	784	c.722T>G	c.(721-723)gTg>gGg	p.V241G		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	241	Cleavage sites for elastase (Potential).				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TATGGTCTGGTGGCACCTCCA	0.512000														40			8		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390946	49390946	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49390946T>C	uc001rsv.1	-	1	1731	c.1713A>G	c.(1711-1713)caA>caG	p.Q571Q		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	571	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCCTAAGGCTTGGTGCTCTG	0.721000														138			18		0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88376767	88376767	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:88376767G>C	uc003pmg.3	+	19	2167	c.2065G>C	c.(2065-2067)Gaa>Caa	p.E689Q	ORC3_uc003pmh.3_Missense_Mutation_p.E688Q|ORC3_uc011dzp.2_Missense_Mutation_p.E545Q|ORC3_uc011dzo.2_Missense_Mutation_p.E545Q|ORC3_uc003pmj.1_Non-coding_Transcript	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	688					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTCTGAACTAGAACTTTTAGG	0.388000														22			8		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806260	160806260	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160806260C>T	uc002ube.2	-	24	3780	c.3568G>A	c.(3568-3570)Ggc>Agc	p.G1190S	PLA2R1_uc010zcp.2_Missense_Mutation_p.G1190S|PLA2R1_uc002ubf.3_Missense_Mutation_p.G1190S	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1190	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATTTGGTGCCATCAGACCAG	0.502000														39			12		0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417819	46417820	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46417819_46417820CC>TT	uc002pdu.3	-	0	217_218	c.132_133GG>AA	c.(130-135)ctgggg>ctAAgg	p.G45R		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	45					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		TGATCCTGCCCCAGCGGAGGCC	0.658000														91			26		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307671	39307671	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:39307671G>A	uc021wwc.1	-	1	466	c.426C>T	c.(424-426)ttC>ttT	p.F142F	CX3CR1_uc021wwa.1_Silent_p.F110F|CX3CR1_uc021wwb.1_Silent_p.F110F|CX3CR1_uc003cjl.3_Silent_p.F110F|CX3CR1_uc021wwd.1_Silent_p.F110F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	110					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAAAGCCGATGAAGAAGAAGG	0.483000														42			65		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702778	40702778	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:40702778T>C	uc010mmj.3	+	3	464	c.435T>C	c.(433-435)gcT>gcC	p.A145A		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	145	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGGAAGATGCTGCTCCCATTC	0.592000														287			43		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575515	71575515	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:71575515C>T	uc001xmo.2	+	33	6942	c.6496C>T	c.(6496-6498)Caa>Taa	p.Q2166*	PCNX_uc010are.1_Nonsense_Mutation_p.Q2055*|PCNX_uc010arf.1_Nonsense_Mutation_p.Q954*|PCNX_uc001xmp.2_Nonsense_Mutation_p.Q250*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2166	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCATCCATCCAATCCCGACT	0.577000														56			19		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428746	139428746	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:139428746C>T	uc002tvi.3	-	1	541	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	181	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GATTTGGATTCCTTGGTCTCC	0.473000														17			7		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55350941	55350941	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55350941G>A	uc002qhm.1	+	3	475	c.429G>A	c.(427-429)gaG>gaA	p.E143E	KIR3DL2_uc010yfj.2_Silent_p.E136E|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.E143E|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	238	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGGCAGGAGAGAATGTGACCT	0.582000														110			184		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262763	127262763	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127262763C>T	uc004boo.1	-	3	663	c.476G>A	c.(475-477)gGg>gAg	p.G159E	NR5A1_uc022bnh.1_Missense_Mutation_p.G159E	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	159					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCCCAGTGGCCCAGCAGGTGG	0.741000														10			14		0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539177	48539177	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:48539177C>T	uc001zwn.4	+	11	1740	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	SLC12A1_uc010uew.1_Silent_p.A314A|SLC12A1_uc010bem.3_Silent_p.A508A|SLC12A1_uc001zwq.4_Silent_p.A279A|SLC12A1_uc001zwr.4_Silent_p.A235A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	508					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.A508T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCTCCTCCGCCCTGGCCTCCC	0.507000														5			113		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286023	130286023	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130286023A>G	uc010htl.3	+	3	1791	c.1760A>G	c.(1759-1761)gAa>gGa	p.E587G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	587	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.E586D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCAGGAGAGGAAAAGAGAGTG	0.433000														91			23		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214550	46214550	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46214550G>A	uc003oyc.2	-	3	659	c.506C>T	c.(505-507)cCc>cTc	p.P169L	RCAN2_uc003oyb.2_Missense_Mutation_p.P123L|RCAN2_uc003oyd.2_Missense_Mutation_p.P169L	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	123					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATCGTTGATGGGCTGCCAGCC	0.527000														21			22		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23222020	23222020	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23222020C>T	uc009vqj.1	+	7	1792	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A	EPHB2_uc001bge.3_Silent_p.A549A|EPHB2_uc001bgf.3_Silent_p.A549A|EPHB2_uc010odu.2_Intron	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	549					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCTCCTCGGCCGCTGGCCTGG	0.607000														60			42		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552685	14552685	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:14552685C>T	uc021wtn.1	-	17	2209	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	641	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGTTGTCCTCGTCCTTCCGG	0.607000														17			11		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33565814	33565814	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:33565814C>G	uc021qfs.1	+	0	1938	c.1814C>G	c.(1813-1815)tCg>tGg	p.S605W	C11orf41_uc001mun.1_Missense_Mutation_p.S605W	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	605						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TCTTCTATATCGACCAGTGTC	0.483000														73			61		0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35616188	35616188	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35616188A>G	uc003zxb.2	-	4	564	c.440T>C	c.(439-441)aTa>aCa	p.I147T	CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Missense_Mutation_p.I147T|CD72_uc010mkv.2_3'UTR|CD72_uc010mkw.1_Non-coding_Transcript	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	147					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTGCGTTATCTTGAGGCG	0.587000														59			23		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7211092	7211092	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7211092T>C	uc003mxb.3	+	6	973	c.481T>C	c.(481-483)Tct>Cct	p.S161P	RREB1_uc021yky.1_Missense_Mutation_p.S161P|RREB1_uc010jnw.3_Missense_Mutation_p.S161P|RREB1_uc003mxc.3_Missense_Mutation_p.S161P|RREB1_uc010jnx.3_Missense_Mutation_p.S161P|RREB1_uc003mxd.3_Missense_Mutation_p.S161P|RREB1_uc021ykz.1_Missense_Mutation_p.S161P|RREB1_uc021yla.1_Missense_Mutation_p.S161P	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	161					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCCCTCCATCTCCTCTGAA	0.488000														115			10		0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738874	43738874	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43738874T>C	uc021omm.1	+	0	481	c.481T>C	c.(481-483)Ttg>Ctg	p.L161L	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Silent_p.L161L|TMEM125_uc001cir.3_Silent_p.L161L	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	161						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCTCGCTTTTGCTGCTGGG	0.692000														63			11		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62363302	62363302	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62363302A>C	uc001ntq.2	-	12	1566	c.1176T>G	c.(1174-1176)gcT>gcG	p.A392A	MTA2_uc010rlx.1_Silent_p.A219A	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	392					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCAACAGGAAGCACAGAGGC	0.572000														73			19		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640671	140640671	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:140640671A>C	uc021xsg.1	-	4	3975	c.3223T>G	c.(3223-3225)Ttt>Gtt	p.F1075V	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.F538V	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	1071					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CTTGGAGCAAAGCTGCCACTG	0.622000														36			10		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40627740	40627740	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40627740T>G	uc002yxk.2	-	18	2381	c.2086A>C	c.(2086-2088)Agc>Cgc	p.S696R	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.S696R|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Missense_Mutation_p.S149R|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.S416R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGTCTAAGCTCAGCCTTCTA	0.418000														31			8		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32351530	32351530	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32351530C>T	uc001utt.3	+	7	730	c.659C>T	c.(658-660)cCa>cTa	p.P220L	RXFP2_uc010aba.3_Missense_Mutation_p.P220L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATGACAATCCAATAACCAGA	0.353000														4			7		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90647974	90647974	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90647974T>C	uc011eab.2	-	7	2806	c.1932A>G	c.(1930-1932)ttA>ttG	p.L644L	BACH2_uc003pnw.3_Silent_p.L644L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	644						nucleus	protein dimerization activity|sequence-specific DNA binding	p.L644L(3)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAATAAACTCTAACTGTTCTG	0.433000														34			6		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37265141	37265141	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37265141G>A	uc002rpp.1	-	20	3169	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1025							binding	p.R1025H(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAGAGGAACGAATTGTAGAA	0.363000														46			12		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43243680	43243680	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43243680G>A	uc002yzq.1	-	20	2964	c.2853C>T	c.(2851-2853)caC>caT	p.H951H	PRDM15_uc002yzo.3_Silent_p.H622H|PRDM15_uc002yzp.3_Silent_p.H642H|PRDM15_uc002yzr.1_Silent_p.H642H	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACACCTTGAAGTGGACATGGA	0.612000														11			12		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572304	169572304	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:169572304A>G	uc001ggi.4	-	9	1730	c.1665T>C	c.(1663-1665)acT>acC	p.T555T	SELP_uc001ggh.3_Silent_p.T390T|SELP_uc009wvr.3_Silent_p.T555T	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	555	Sushi 6.				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)	GTCCCGATCGAGTACAATCCA	0.453000														51			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458387	179458387	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179458387C>T	uc021vsy.1	-	246	51161	c.50936G>A	c.(50935-50937)gGa>gAa	p.G16979E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G10674E|TTN_uc021vta.1_Missense_Mutation_p.G10607E|TTN_uc021vtb.1_Missense_Mutation_p.G10482E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17906	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G10482E(1)		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)			ATAATCTTTTCCTTCAAGTAG	0.363000														14			19		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196558	55196558	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55196558A>T	uc003pcm.1	+	1	154	c.68A>T	c.(67-69)aAt>aTt	p.N23I		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	23						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)			CAAACCAATAATTGCACATAT	0.348000														35			6		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981008	61981008	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61981008G>A	uc002yes.2	-	4	1933	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	CHRNA4_uc002yet.1_Silent_p.F409F|CHRNA4_uc010gke.1_Silent_p.F514F|CHRNA4_uc002yev.1_Silent_p.F409F|CHRNA4_uc010gkf.1_Silent_p.F409F	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	585					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACTTACCGAGAAGTCTGTGT	0.677000														57			59		0	0	1	0	0
ZCCHC10	54819	broad.mit.edu	37	5	132342495	132342495	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:132342495C>T	uc003kyh.3	-	2	236	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ZCCHC10_uc003kyg.3_Silent_p.K53K|ZCCHC10_uc011cxl.2_Silent_p.K53K	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	75							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAAAGCTTTCTTTAGTTCTG	0.313000														13			7		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408332	29408332	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29408332C>T	uc011dlp.2	+	0	617	c.540C>T	c.(538-540)atC>atT	p.I180I	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGTGAGATCCAGCCTGTCC	0.587000														109			78		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104442916	104442916	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:104442916A>C	uc003yln.3	+	6	1435	c.1158_splice	c.e6+1	p.K386_splice	DCAF13_uc003ylm.1_Splice_Site_p.K119_splice	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	234					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						CCTTTGAAAAAGGTGAGTTTC	0.333000														85			12		0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16735625	16735625	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16735625C>T	uc010vwr.1	-	0	523	c.81G>A	c.(79-81)gtG>gtA	p.V27V						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		CACGGATCTTCACTTCCAGGT	0.592000														156			113		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474220	73474220	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73474220A>G	uc003tzw.3	+	22	1528	c.1437A>G	c.(1435-1437)ttA>ttG	p.L479L	ELN_uc003tzn.3_Silent_p.L473L|ELN_uc003tzy.3_Silent_p.L449L|ELN_uc003tzz.3_Silent_p.L392L|ELN_uc003tzo.3_Silent_p.L440L|ELN_uc003tzp.3_Silent_p.L384L|ELN_uc003tzq.3_Silent_p.L337L|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Silent_p.L454L|ELN_uc003tzt.3_Silent_p.L478L|ELN_uc003tzu.3_Silent_p.L459L|ELN_uc003tzv.3_Silent_p.L444L|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.L463L|ELN_uc011kff.2_Silent_p.L473L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	502	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.G478R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTGCAGGGTTAGTTCCTGGTG	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							287			16		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73044480	73044480	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73044480C>T	uc004ebn.2	+	0		c.32441C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AAGTTTTATTCATACAGAAAG	0.328000														6			3		0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67210079	67210079	+	Silent	SNP	G	A	A	rs150308810	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67210079G>A	uc001oll.2	-	2	154	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CORO1B_uc001olk.1_Silent_p.V7V|CORO1B_uc009yrt.1_Non-coding_Transcript|CORO1B_uc010rps.1_Silent_p.V7V|CORO1B_uc009yrv.1_Silent_p.V7V	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	7					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGCTCTGCCGGACCACTTTGC	0.612000														37			21		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103954	168103954	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168103954C>T	uc002udx.3	+	8	6141	c.6052C>T	c.(6052-6054)Ctt>Ttt	p.L2018F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.L1843F|XIRP2_uc010fpq.3_Missense_Mutation_p.L1796F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1843					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGGTTAATCTTCCAAAAGC	0.438000														28			12		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52863157	52863157	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52863157C>T	uc011bem.2	-	1	257	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	ITIH4_uc003dfy.3_5'Flank|ITIH4_uc003dfz.3_Missense_Mutation_p.A77T|ITIH4_uc011ben.2_Missense_Mutation_p.A77T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	77	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGATGAAGGCTTTCTTGGGC	0.587000														15			17		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137257	33137257	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33137257C>T	uc003ocx.1	-	50	3929	c.3701G>A	c.(3700-3702)gGg>gAg	p.G1234E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1148E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1127E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1234	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCACGTTCCCCGCGTGGACC	0.627000														41			9		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23381790	23381790	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:23381790G>A	uc003swg.3	-	9	1362	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	IGF2BP3_uc003swf.3_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	366					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTTAATCCAGGAATTAAATGT	0.468000														30			18		0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434812	35434812	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35434812A>G	uc010edq.1	+	4	1323	c.945A>G	c.(943-945)aaA>aaG	p.K315K	ZNF30_uc002nxf.2_Silent_p.K233K|ZNF30_uc010edp.1_Silent_p.K314K|ZNF30_uc010edr.1_Silent_p.K315K	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTGGCGAGAAACCCTATGAAT	0.433000														71			27		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093778	40093778	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40093778T>C	uc001zkj.1	-	2	1969	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R	GPR176_uc010uck.1_Missense_Mutation_p.Q308R	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	368					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCCAGGAGCTGGCTACCCGA	0.567000														75			16		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506604	11506604	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11506604C>T	uc001qzw.1	-	2	470	c.433G>A	c.(433-435)Gga>Aga	p.G145R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	145	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607000														396			28		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627088	108627088	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:108627088G>A	uc002tdv.3	+	8	1790	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLC5A7_uc010ywm.2_Missense_Mutation_p.G258E|SLC5A7_uc010fjj.3_Missense_Mutation_p.G505E|SLC5A7_uc010ywn.2_Missense_Mutation_p.G392E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	505					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGAAAGTGGAACCTTGCCA	0.313000														13			15		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770359	112770359	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112770359C>T	uc003kqm.2	-	0	370	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	60	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATCTCAATTTCCCGGGGAAGG	0.488000														17			11		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112225680	112225680	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:112225680A>T	uc004bed.2	-	1	147	c.35T>A	c.(34-36)aTt>aAt	p.I12N	PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.I12N|PTPN3_uc011lwh.1_5'UTR|PTPN3_uc004bee.4_Missense_Mutation_p.I12N	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	12					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TATATTATTAATTCTTCCACC	0.398000														57			14		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87662966	87662966	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87662966T>A	uc003hpz.3	+	15	2964	c.2484T>A	c.(2482-2484)ttT>ttA	p.F828L	PTPN13_uc003hpy.3_Missense_Mutation_p.F828L|PTPN13_uc003hqa.3_Missense_Mutation_p.F828L|PTPN13_uc003hqb.3_Missense_Mutation_p.F828L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	828	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAATATCTTTTTCTGTATGTC	0.368000														1			3		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399709	46399709	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46399709C>T	uc003cpn.4	+	1	1176	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	CCR2_uc003cpm.4_Missense_Mutation_p.R231W|CCR2_uc021wxa.1_Missense_Mutation_p.R231W	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	231					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AACCCTGCTTCGGTGTCGAAA	0.448000														129			58		0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176943307	176943308	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176943307_176943308GG>AA	uc003mho.3	-	2	300_301	c.279_280CC>TT	c.(277-282)cacctt>caTTtt	p.L94F	DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	94					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTCTCTTTAAGGTGCTGGTGCT	0.579000														73			38		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999902	218999902	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:218999902G>A	uc002vgz.2	+	3	588	c.378G>A	c.(376-378)aaG>aaA	p.K126K	CXCR2_uc002vha.2_Silent_p.K126K|CXCR2_uc002vhb.2_Silent_p.K126K|CXCR2_uc021vwp.1_Silent_p.K126K	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	126					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTCCTGAAGGAAGTCAACT	0.557000														11			40		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2550412C>T	uc002cql.3	+	6	1586	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TBC1D24_uc002cqk.3_Silent_p.F476F|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	482	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000														6			3		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858180	54858180	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:54858180C>T	uc002rxu.3	+	15	3245	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	SPTBN1_uc002rxx.3_Missense_Mutation_p.T986I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	999					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGCAAGCTGACCGGCATGGAG	0.622000														40			23		0	0	1	0	0
ZSWIM7	125150	broad.mit.edu	37	17	15884443	15884443	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:15884443T>G	uc002gpe.3	-	3	315	c.217A>C	c.(217-219)Agt>Cgt	p.S73R	ZSWIM7_uc002gpf.3_Missense_Mutation_p.S73R|ZSWIM7_uc002gpg.3_Non-coding_Transcript	NM_001042698	NP_001036163	Q19AV6	ZSWM7_HUMAN	Homo sapiens zinc finger, SWIM-type containing 7 (ZSWIM7), transcript variant 2, mRNA.	73					DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TATGTTTTACTGGAACTTCCA	0.433000														36			8		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963390	96963390	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96963390G>A	uc002svu.3	-	9	1320	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	396						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACCCTGGTCGAGATCCATGG	0.483000														50			21		0	0	1	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256076	71256076	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:71256076C>T	uc002sho.3	+	2		c.246C>T			OR7E91P_uc010fdz.3_Non-coding_Transcript					Homo sapiens olfactory receptor, family 7, subfamily E, member 91 pseudogene (OR7E91P), non-coding RNA.																		CACGGAATCTCACAGGAGCCT	0.502000														4			3		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112806	248112806	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248112806C>T	uc001idt.1	+	0	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATTTCATGTTCCTATGGCCAG	0.483000														66			19		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724531	50724531	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:50724531C>T	uc021vhh.1	-	12	3740	c.2819G>A	c.(2818-2820)gGa>gAa	p.G940E	NRXN1_uc002rxb.4_Missense_Mutation_p.G612E|NRXN1_uc021vhg.1_Missense_Mutation_p.G980E|NRXN1_uc021vhi.1_Missense_Mutation_p.G976E|NRXN1_uc021vhj.1_Missense_Mutation_p.G936E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	940	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGAATTAATCCATCTAGGGA	0.368000														27			10		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212350	43212350	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43212350G>A	uc002lbe.3	+	4	1373	c.557G>A	c.(556-558)gGg>gAg	p.G186E	SLC14A2_uc002lbb.3_Missense_Mutation_p.G186E|SLC14A2_uc010dnj.3_Missense_Mutation_p.G186E	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	186						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGTACAACGGGATGCTGGTG	0.552000														4			57		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749922	234749922	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234749922C>T	uc002vvg.3	-	7	1570	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	HJURP_uc010znd.2_Missense_Mutation_p.E441K|HJURP_uc010zne.2_Missense_Mutation_p.E410K	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	502					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCTAGGTTTTCAAAAGCCTCA	0.512000														59			22		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422635	6422635	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6422635G>A	uc001mdb.1	-	9	1622	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	APBB1_uc001mdd.3_Missense_Mutation_p.R288C|APBB1_uc001mdc.1_Missense_Mutation_p.R508C|APBB1_uc010rab.2_Missense_Mutation_p.R35C|APBB1_uc010rad.2_Missense_Mutation_p.R227C	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	510	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCAAGCAGCGGGCATTACGC	0.557000														41			29		0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50489269	50489269	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:50489269T>C	uc001vdl.2	-	4	775	c.521A>G	c.(520-522)cAg>cGg	p.Q174R	SPRYD7_uc001vdm.2_Missense_Mutation_p.Q135R|SPRYD7_uc010tgm.1_Non-coding_Transcript	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	174	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTCACTGAACTGGCAATCCAA	0.269000														39			6		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96079871	96079871	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96079871G>A	uc004ati.1	+	28	6697	c.6697G>A	c.(6697-6699)Gtc>Atc	p.V2233I	WNK2_uc011lud.1_Missense_Mutation_p.V2196I|WNK2_uc004atj.3_Missense_Mutation_p.V2196I|WNK2_uc004atk.3_Missense_Mutation_p.V1721I	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2233					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTCCACCACGGTCATTCCCGG	0.652000														41			23		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600036	81600036	+	Missense_Mutation	SNP	C	T	T	rs79127167		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:81600036C>T	uc003uhr.1	-	26	2415	c.2159G>A	c.(2158-2160)cGa>cAa	p.R720Q	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	732						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACAACAAATCGTGCTTTCAC	0.363000														43			34		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332510	123332510	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123332510A>C	uc003vkz.3	-	8	1566	c.1238T>G	c.(1237-1239)aTt>aGt	p.I413S		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	413	WH2 1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCCTCTCTAATTTGATCTAA	0.542000														64			10		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8475376	8475376	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:8475376C>T	uc003srv.3	+	1	944	c.33C>T	c.(31-33)ctC>ctT	p.L11L	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	11						extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGCTTTTCCTCCTGCAGCCCA	0.557000														63			58		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105635202	105635202	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:105635202C>T	uc003vdl.4	+	4	627	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CDHR3_uc003vdk.3_Intron|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.4_Silent_p.F160F|CDHR3_uc011klt.2_Silent_p.F85F	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	173	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTTAGTATTTCCTGATTTCTC	0.433000														10			3		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519802	23519802	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23519802C>T	uc001bgn.3	-	0	1421	c.911G>A	c.(910-912)gGc>gAc	p.G304D		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	304					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGAATGATGCCCAGGATTTT	0.552000														100			53		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342748	29342748	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29342748C>T	uc003nme.3	-	0	321	c.317G>A	c.(316-318)gGa>gAa	p.G106E		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTCTGTGCTTCCCAAAAAGTG	0.498000														22			20		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524652	161524652	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161524652T>C	uc010jjc.3	+	3	694	c.336T>C	c.(334-336)acT>acC	p.T112T	GABRG2_uc003lyy.4_Silent_p.T112T|GABRG2_uc003lyz.4_Silent_p.T112T|GABRG2_uc011dej.2_Silent_p.T17T	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	112					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGGAATACACTATTGATATAT	0.308000														19			6		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640281	3640281	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3640281T>G	uc002cvp.2	-	11	3985	c.3358A>C	c.(3358-3360)Aaa>Caa	p.K1120Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1120	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GACGGAGATTTTTCTGGGAAC	0.498000								Direct reversal of damage						54			26		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17140199	17140199	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17140199A>G	uc001mmq.4	-	16	3093	c.3028T>C	c.(3028-3030)Tta>Cta	p.L1010L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.L630L|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1010					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.L1010L(2)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TACCAATATAAATTGTGTGCT	0.318000														54			21		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277703	116277703	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:116277703G>A	uc003pwi.1	-	4	1317	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	290	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CATAAAGCTGGATAAGCTTTG	0.373000														6			55		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72920191	72920191	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:72920191A>C	uc004ahr.2	+	10	1610	c.1493A>C	c.(1492-1494)aAa>aCa	p.K498T		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	498	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAAATGCCAAATATATTGAA	0.279000														43			10		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071204	73071204	+	RNA	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73071204T>A	uc004ebm.1	-	0		c.1385A>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CGGCAAGACCTTCAGCCGCCA	0.527000														5			157		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55803423	55803423	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:55803423A>C	uc010gip.1	-	1	1002	c.473T>G	c.(472-474)tTt>tGt	p.F158C	BMP7_uc002xyc.3_Missense_Mutation_p.F158C	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	158					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GGAAAGATCAAACCGGAACTC	0.522000														148			56		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689011	43689011	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43689011C>T	uc002ovu.3	-	1	484	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G118E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	118	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTGTAGGATCCTGCGTCTTC	0.448000														205			179		0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716581	45716581	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45716581C>T	uc002pay.1	-	9	1017	c.976G>A	c.(976-978)Ggc>Agc	p.G326S		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	326								p.R325C(1)|p.R325H(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TTGCGCAGGCCACGGATGTCG	0.667000														53			42		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111981038	111981038	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111981038C>T	uc003vge.2	+	10	1250	c.1121C>T	c.(1120-1122)aCt>aTt	p.T374I	ZNF277_uc003vgf.2_Missense_Mutation_p.T296I	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	374						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GACTTAAGAACTCACATGGAA	0.433000														48			39		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265223	39265223	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39265223T>G	uc001uwv.3	+	0	4051	c.3742T>G	c.(3742-3744)Ttg>Gtg	p.L1248V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1248					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCACGGTTTTGGTCGAAAG	0.428000														171			17		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135545108	135545108	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:135545108C>T	uc003yup.3	-	11	3270	c.3084G>A	c.(3082-3084)ggG>ggA	p.G1028G	ZFAT_uc011ljj.2_Silent_p.G147G|ZFAT_uc003yun.3_Silent_p.G1016G|ZFAT_uc003yuo.3_Silent_p.G1016G|ZFAT_uc010meh.3_Silent_p.G1016G|ZFAT_uc010mej.3_Silent_p.G966G|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.G1016G	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGCCAGCTCCCCGGTGCCCA	0.607000														9			13		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738629	229738629	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:229738629G>A	uc001htq.3	-	3	451	c.285C>T	c.(283-285)ctC>ctT	p.L95L	TAF5L_uc001htr.3_Silent_p.L95L	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	95					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGGATAGAGGAGAGGCATCA	0.428000														31			25		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291740	33291740	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:33291740G>A	uc001wrq.3	+	12	4891	c.4721G>A	c.(4720-4722)gGg>gAg	p.G1574E		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1574	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.P1573S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTTTCTCCAGGGGGTGATTTA	0.398000														74			25		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911056	139911056	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139911056G>A	uc004ckm.1	-	19	3030	c.2980C>T	c.(2980-2982)Cag>Tag	p.Q994*	ABCA2_uc022bpy.1_Nonsense_Mutation_p.Q895*|ABCA2_uc022bpz.1_Nonsense_Mutation_p.Q965*|ABCA2_uc011mem.1_Nonsense_Mutation_p.Q964*|ABCA2_uc004ckl.1_Nonsense_Mutation_p.Q895*|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	964	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACAGGCCTGGTCCTCCTCC	0.677000														26			39		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262274	167262274	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167262274C>T	uc002udu.2	-	24	4995	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCTTGTTTTCGTTTCAAAGT	0.363000														74			33		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068327	35068327	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35068327A>C	uc003jjm.3	-	8	1405	c.846T>G	c.(844-846)caT>caG	p.H282Q	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Missense_Mutation_p.H282Q|PRLR_uc003jjh.2_Missense_Mutation_p.H282Q|PRLR_uc003jji.2_Missense_Mutation_p.H211Q|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H181Q|PRLR_uc021xxl.1_Missense_Mutation_p.H282Q|PRLR_uc010iuw.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	282					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.A281P(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTCCAACAGATGAGCATCAA	0.428000														118			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49416509	49416509	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49416509A>G	uc001rta.4	-	50	16202	c.16202T>C	c.(16201-16203)cTg>cCg	p.L5401P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5401	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGAGCGAGCCAGGTACACGTT	0.552000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				245			7		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200418	132200418	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132200418C>T	uc002tst.2	-	0	2050	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCCCTCTTTCCAAGAATCCCT	0.557000														13			9		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19444890	19444890	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:19444890G>A	uc010tcj.1	-	0		c.1220C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GTTTAAGAAGGATGTTGACAA	0.358000														27			8		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817659	7817659	+	Silent	SNP	C	T	T	rs138168724	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7817659C>T	uc001mfp.1	-	0	831	c.831G>A	c.(829-831)gtG>gtA	p.V277V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	277					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)		ACATGGGAATCACCACTGTGT	0.438000														43			25		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26699865	26699865	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26699865T>G	uc002rhk.3	-	21	2697	c.2570A>C	c.(2569-2571)aAc>aCc	p.N857T	OTOF_uc002rhh.3_Missense_Mutation_p.N110T|OTOF_uc002rhi.3_Missense_Mutation_p.N167T|OTOF_uc002rhj.3_Missense_Mutation_p.N110T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	857					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACGCTTGTTGTTGCTCAT	0.607000														9			3		0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124453989	124453989	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124453989A>T	uc003ehl.4	+	1	312	c.206A>T	c.(205-207)gAc>gTc	p.D69V	UMPS_uc011bkb.2_5'UTR|UMPS_uc003ehn.4_Intron|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Missense_Mutation_p.T7S|UMPS_uc011bkc.2_Intron|UMPS_uc011bkd.2_Intron	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	69	OPRTase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATCAGTTTTGACACCGTGTGT	0.343000														36			5		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542496	10542496	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10542496G>A	uc002gmq.2	-	24	3201	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1038					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGTTCTAGGGAGCTTTCCAG	0.473000														4			62		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154138960	154138960	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:154138960T>G	uc003faa.3	-	2	1591	c.1491A>C	c.(1489-1491)ggA>ggC	p.G497G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAATATCACCTCCTGTTTTGT	0.403000														184			10		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830150	38830150	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:38830150T>G	uc010ifg.2	-	1	1066	c.945A>C	c.(943-945)caA>caC	p.Q315H	TLR6_uc003gtm.3_Missense_Mutation_p.Q315H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	315					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGAAAAACTTGGTTCGTGA	0.313000														14			5		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423378	107423378	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:107423378C>T	uc002tdq.3	-	5	1465	c.1346G>A	c.(1345-1347)aGa>aAa	p.R449K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R449K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	449					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCACCTCTCTGCACATGGA	0.512000														13			5		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703870	68703870	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68703870A>G	uc001ook.1	+	12	2024	c.1922A>G	c.(1921-1923)gAg>gGg	p.E641G	IGHMBP2_uc001ool.1_Missense_Mutation_p.E265G|IGHMBP2_uc001oom.1_Missense_Mutation_p.E219G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	641					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGCCTTTGAGTATCTTGAC	0.537000														143			35		0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2640345	2640345	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:2640345T>G	uc002wgp.3	-	10	1019	c.1010_splice	c.e10+1	p.N337_splice	IDH3B_uc002wgq.3_Splice_Site_p.N337_splice|IDH3B_uc002wgr.3_Splice_Site_p.N185_splice	NM_006899	NP_008830	O43837	IDH3B_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	337					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CATGACCTACTTAAGATGCCG	0.597000														219			41		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889827	24889827	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24889827C>T	uc001isb.2	-	13	3367	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Silent_p.Q960Q|ARHGAP21_uc010qdc.1_Silent_p.Q795Q	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	959	Interaction with ARF1 and ARF6.|PH.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding	p.Q959Q(2)|p.M960I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAACATACATCTGTTTCCATG	0.423000														50			34		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223923	142223923	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142223923C>T	uc003vyi.2	-	1	261	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAAATCGATCCTTAGGCAAC	0.522000														118			20		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15993968	15993968	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:15993968A>G	uc003goo.2	-	15	2026	c.1814T>C	c.(1813-1815)cTt>cCt	p.L605P	PROM1_uc003gor.2_Missense_Mutation_p.L605P|PROM1_uc003gos.2_Missense_Mutation_p.L596P|PROM1_uc003got.2_Missense_Mutation_p.L605P|PROM1_uc003gou.2_Missense_Mutation_p.L596P|PROM1_uc003gop.2_Missense_Mutation_p.L596P|PROM1_uc003goq.3_Missense_Mutation_p.L596P	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	605					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAAGATATTAAGATTTACCTT	0.388000														62			6		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42861646	42861647	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42861646_42861647CC>TT	uc002otl.4	+	26	5355_5356	c.4720_4721CC>TT	c.(4720-4722)ccg>TTg	p.P1574L	MEGF8_uc002otm.4_Missense_Mutation_p.P1182L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1641						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGTTACTCCCCGGAAAATGGC	0.668000														37			30		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39550907	39550908	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39550907_39550908CA>AT	uc001uwx.3	-	1	217_218	c.79_80TG>AT	c.(79-81)tgt>ATt	p.C27I	STOML3_uc010tez.2_Missense_Mutation_p.C18I	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	27						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATCCAGCCACATACACCAAGC	0.446000														10			13		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465837	1465837	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1465837A>C	uc002lsr.1	+	14	2745	c.2537A>C	c.(2536-2538)aAg>aCg	p.K846T	APC2_uc002lss.1_Missense_Mutation_p.K428T|APC2_uc002lst.1_Missense_Mutation_p.K846T|APC2_uc002lsu.1_Missense_Mutation_p.K845T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	846					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAAGGCCAAGCTGGCGCTT	0.701000														23			6		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217856629	217856629	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:217856629T>A	uc001hlh.1	+	4	347	c.321T>A	c.(319-321)gtT>gtA	p.V107V	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	107	IQ 3.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GCTATAGGGTTCGGAAGTACC	0.318000														119			31		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830854	13830854	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:13830854C>T	uc010gcf.3	-	18	2012	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N	SEL1L2_uc002woq.4_Missense_Mutation_p.D505N|SEL1L2_uc010zrl.2_Missense_Mutation_p.D531N|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	644						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AACAGGATATCCCGGAGCAAA	0.473000														31			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166991	140166991	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140166991C>T	uc003lhb.2	+	0	1116	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	PCDHAC2_uc003lha.2_Silent_p.I372I|PCDHAC2_uc003lgz.3_Silent_p.I372I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	387					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCCTCATCACCGTGTCTG	0.522000														25			25		0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67352211	67352211	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67352211A>C	uc001omf.3	+	3	449	c.200A>C	c.(199-201)aAt>aCt	p.N67T		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	67	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TACCAGTCCAATACCATCCTG	0.622000														193			9		0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178987046	178987046	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178987046G>A	uc003mka.1	+	1	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RUFY1_uc003mkb.1_Missense_Mutation_p.E3K|RUFY1_uc003mkc.1_Missense_Mutation_p.E3K	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	111					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGATGATGGAGGAGCGTGC	0.602000										HNSCC(44;0.11)				6			3		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117631542	117631542	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:117631542C>T	uc001egy.3	+	12	2300	c.2280C>T	c.(2278-2280)gcC>gcT	p.A760A		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	760	Helicase ATP-binding.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGCCTGTGCCCGTTGGGCTG	0.453000														125			36		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69957185	69957185	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:69957185C>T	uc001jnm.4	+	16	3420	c.3235C>T	c.(3235-3237)Cct>Tct	p.P1079S	MYPN_uc001jnn.4_Missense_Mutation_p.P804S|MYPN_uc001jno.4_Missense_Mutation_p.P1079S|MYPN_uc009xpt.3_Missense_Mutation_p.P1079S|MYPN_uc010qit.2_Missense_Mutation_p.P785S|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1079	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTGCAGGCTCCTGGGGATAT	0.493000														2			71		0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47187861	47187861	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47187861C>T	uc001ndt.3	-	14	1775	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	ARFGAP2_uc010rha.2_Silent_p.G232G|ARFGAP2_uc010rhb.2_Silent_p.G473G|ARFGAP2_uc001ndu.3_Silent_p.G365G|ARFGAP2_uc010rhc.2_Silent_p.G232G	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	501	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGCCATTTTCCCAGCCACAG	0.547000														71			76		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890205	139890205	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139890205A>G	uc003yvd.3	-	2	893	c.446T>C	c.(445-447)cTc>cCc	p.L149P		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	149	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCGTCGGTGAGCAGGATGGC	0.726000										HNSCC(7;0.00092)				8			3		0	0	1	0	0
RASSF10	644943	broad.mit.edu	37	11	13031254	13031254	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:13031254G>A	uc021qdz.1	+	0	285	c.131G>A	c.(130-132)cGg>cAg	p.R44Q		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	44	Ras-associating.				signal transduction										Epithelial(150;0.00399)		CGGCGGCGACGGAGACAGCGG	0.711000														4			6		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6528086	6528086	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:6528086G>A	uc001iji.1	-	7	994	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	PRKCQ_uc001ijj.2_Missense_Mutation_p.H271Y|PRKCQ_uc009xim.2_Missense_Mutation_p.H271Y|PRKCQ_uc009xin.2_Missense_Mutation_p.H235Y|PRKCQ_uc010qax.2_Missense_Mutation_p.H146Y	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	271					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGCATCTATGATGCACATTC	0.498000														34			21		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995539	63995539	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:63995539G>A	uc003peh.3	-	2	317	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	LGSN_uc003pei.3_Missense_Mutation_p.L95F|LGSN_uc003pej.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	95					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACGCCGTGGAGGTCTGTTGCT	0.418000														15			23		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55139782	55139782	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55139782G>A	uc010ooe.1	+	9	2218	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.D200N|HEATR8_uc010ood.1_Missense_Mutation_p.D150N|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.D632N|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	632						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGGCTCTGGACGGCATCAT	0.527000														65			86		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105169003	105169003	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105169003G>A	uc004emd.3	+	18	3595	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N	NRK_uc010npc.1_Missense_Mutation_p.D766N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1098							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1099Y(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCGTCTCAGGACTTTGAATA	0.453000										HNSCC(51;0.14)				4			44		0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156798273	156798273	+	Missense_Mutation	SNP	A	G	G	rs112939037		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:156798273A>G	uc003wnd.1	-	2	1450	c.1147T>C	c.(1147-1149)Tgc>Cgc	p.C383R	MNX1_uc003wmz.3_Intron|MNX1_uc003wna.3_Intron|MNX1_uc003wnc.1_Missense_Mutation_p.C171R|MNX1_uc022aqk.1_Non-coding_Transcript|MNX1_uc010lqr.1_Non-coding_Transcript	NM_005515	NP_005506	P50219	MNX1_HUMAN	Homo sapiens motor neuron and pancreas homeobox 1 (MNX1), transcript variant 1, mRNA.	383					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCGAGGAGCAGTCGGAGGAG	0.741000														17			4		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749181	33749181	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33749181G>A	uc002hji.4	-	1	1244	c.867C>T	c.(865-867)ttC>ttT	p.F289F	SLFN12_uc002hjj.4_Silent_p.F289F|SLFN12_uc010cts.3_Silent_p.F289F	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	289							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATACTCCAAGGAATTTGCATG	0.418000														35			17		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071507	240071507	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240071507G>A	uc021plc.1	+	0	756	c.756G>A	c.(754-756)tgG>tgA	p.W252*	CHRM3_uc001hyp.3_Nonsense_Mutation_p.W252*	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	252					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTTATACTGGAGGATCTATA	0.478000														74			9		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42950396	42950396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:42950396C>T	uc003cmk.2	+	2	512	c.326C>T	c.(325-327)tCc>tTc	p.S109F	ZNF662_uc003cmi.2_Missense_Mutation_p.S49F|ZNF662_uc003cmj.2_5'UTR	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGGGGCATCTCCTCAGGTGAG	0.517000														21			16		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638147	3638147	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3638147A>C	uc002fwo.4	-	20	2718	c.2619T>G	c.(2617-2619)aaT>aaG	p.N873K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	873					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCTGGGGTAATTCAAGGCCA	0.537000														196			12		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872778	136872778	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136872778G>A	uc002tuz.3	-	1	815	c.720C>T	c.(718-720)acC>acT	p.T240T	CXCR4_uc002tuy.3_Silent_p.T244T|CXCR4_uc010fnk.3_Silent_p.T225T	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	240					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.R239C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GGATGACTGTGGTCTTGAGGG	0.517000														64			18		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904351	23904351	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23904351T>G	uc001uon.2	-	9	14253	c.13664A>C	c.(13663-13665)gAg>gCg	p.E4555A	SACS_uc001uoo.2_Missense_Mutation_p.E4408A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4555	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATAGCAACCTCAGAAGTGAA	0.358000														44			12		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35035355	35035355	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35035355A>C	uc003jjf.3	-	4	796	c.553T>G	c.(553-555)Tca>Gca	p.S185A	AGXT2_uc011com.2_Missense_Mutation_p.S185A|AGXT2_uc011con.2_Missense_Mutation_p.S93A	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	185					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATGTTGTTTGAGTGCGCCCTG	0.438000														149			14		0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10042620	10042620	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10042620A>T	uc001aqp.3	+	4	845	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA.	234					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGGGGCCAGAGCATTCGC	0.473000														104			18		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779950	50779950	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:50779950C>T	uc021vhh.1	-	7	2455	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	NRXN1_uc002rxb.4_Missense_Mutation_p.E184K|NRXN1_uc021vhg.1_Missense_Mutation_p.E552K|NRXN1_uc021vhi.1_Missense_Mutation_p.E548K|NRXN1_uc021vhj.1_Missense_Mutation_p.E508K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	512	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCATTTGGCTCTGTTGTACGG	0.418000														45			21		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128393297	128393297	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128393297G>A	uc002top.3	+	43	5796	c.5743_splice	c.e43-1	p.E1915_splice	MYO7B_uc002tos.2_Splice_Site_p.E25_splice	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1915	FERM 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCACCCAGGAGCTGCCCAA	0.637000														2			11		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873694	35873694	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35873694G>A	uc003jjs.3	+	4	739	c.650G>A	c.(649-651)tGg>tAg	p.W217*	IL7R_uc011coo.2_Nonsense_Mutation_p.W217*|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	217	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAAGGCTTCTGGAGTGAATGG	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							18			40		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52204843	52204843	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:52204843G>A	uc003jou.3	+	12	1985	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.G55E	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	524					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGGAGCAAGGAAAAGTGTAT	0.383000														15			10		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62995963	62995963	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62995963C>T	uc001nwr.1	-	1	476	c.476G>A	c.(475-477)gGa>gAa	p.G159E	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.G159E	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	159					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGGTTGCCTCCCACCATCAT	0.413000														45			31		0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202864777	202864777	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202864777G>A	uc001gyo.1	-	7	1208	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	KLHL12_uc001gym.1_Silent_p.G69G|KLHL12_uc001gyn.1_Silent_p.G186G|KLHL12_uc010pqc.1_Silent_p.G374G|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	336					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCCATCATAGCCACCAATGA	0.507000														28			18		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015412	93015412	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:93015412G>A	uc002brc.1	+	0	506	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	12										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGCTTCAAAGGAAGACTTGCA	0.522000														23			11		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30753158	30753158	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30753158T>A	uc002wxj.2	+	17	2075	c.1840T>A	c.(1840-1842)Ttg>Atg	p.L614M	TM9SF4_uc010zts.1_Missense_Mutation_p.L521M|TM9SF4_uc002wxk.2_Missense_Mutation_p.L597M	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	614						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTCATGGTCTTGTCCTTCTG	0.527000														148			45		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269836	48269836	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48269836C>T	uc002iqm.3	-	29	2109	c.1983_splice	c.e29+1	p.Q661_splice		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	661	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCCCTCTTACCTGTTCACCAG	0.582000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							8			5		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861860	131861860	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131861860G>T	uc003ytd.4	-	9	2656	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	800					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G799F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TATTTAAGATGGCACCCAGGA	0.468000										HNSCC(32;0.087)				29			22		3.28513e-13	3.30364e-13	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16890525	16890525	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16890525G>A	uc009vos.1	-	29	4155	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1091	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CGTCAAGGGCGAAGCTGATGT	0.443000														795			83		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87025668	87025668	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:87025668T>G	uc009wcs.3	+	1	257	c.213T>G	c.(211-213)ttT>ttG	p.F71L	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	71						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAAAAAGATTTTTTTTCAAAA	0.333000														75			6		0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100367065	100367065	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100367065T>G	uc004axn.3	-	8	1684	c.1196A>C	c.(1195-1197)aAg>aCg	p.K399T	TSTD2_uc004axo.3_Missense_Mutation_p.K173T|TSTD2_uc004axp.1_Missense_Mutation_p.K173T	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	399										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AACAAACAACTTCCCTTTGTA	0.473000														61			4		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127604	170127604	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170127604G>A	uc002ues.3	-	15	2343	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	710					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAAAAATGAGGAAATTCTGAA	0.443000														24			9		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165557189	165557189	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:165557189C>T	uc002ucp.3	-	9	1642	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	COBLL1_uc002ucq.3_Missense_Mutation_p.E435K|COBLL1_uc010zcw.2_Missense_Mutation_p.E540K|COBLL1_uc010zcx.2_Missense_Mutation_p.E481K|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002ucn.3_5'Flank|COBLL1_uc002uco.3_Missense_Mutation_p.E204K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	512										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAAATATTTTCAGCTTCAACT	0.358000														44			41		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220284226	220284226	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220284226C>T	uc001hmc.3	+	10	1530	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	476					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTGGTTATTCGTGCCAGCAA	0.413000														27			26		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188285	32188285	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32188285A>C	uc003obb.3	-	5	1195	c.1056T>G	c.(1054-1056)tgT>tgG	p.C352W	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.C352W	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	352	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTTCTCCTCACAGCTTGTGC	0.622000														97			75		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021605	96021605	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96021605T>C	uc004ati.1	+	10	2775	c.2775T>C	c.(2773-2775)ccT>ccC	p.P925P	WNK2_uc011lud.1_Silent_p.P925P|WNK2_uc004atj.3_Silent_p.P925P|WNK2_uc004atk.3_Silent_p.P562P|WNK2_uc010mrc.1_Silent_p.P873P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	925					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGACGTCCCTCCTTCCCCCC	0.672000														18			11		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379484	379484	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:379484C>T	uc001lpb.3	+	14	2280	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	757						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGTCGCTTCCTGCTGGAGC	0.706000														12			7		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800502	153800502	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153800502T>A	uc001fdb.4	-	1	566	c.322A>T	c.(322-324)Agt>Tgt	p.S108C		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	108						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTCTAGCACTCATATCCACA	0.478000														79			23		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799668	5799668	+	Missense_Mutation	SNP	G	A	A	rs139313367		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5799668G>A	uc010qzn.2	-	0	230	c.197C>T	c.(196-198)cCg>cTg	p.P66L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAATACATCGGATGATGTAA	0.453000														3			45		0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57428449	57428449	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57428449T>C	uc001nkw.3	+	2	958	c.819T>C	c.(817-819)ttT>ttC	p.F273F	CLP1_uc010rjw.2_Silent_p.F209F|CLP1_uc009yml.3_Silent_p.F273F	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	273					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TCCCCCACTTTGTACGCACTG	0.527000														143			12		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122271449	122271449	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122271449A>C	uc010hri.3	-	4	1173	c.1028T>G	c.(1027-1029)aTt>aGt	p.I343S	PARP9_uc003eff.4_Missense_Mutation_p.I308S|PARP9_uc011bjs.2_Missense_Mutation_p.I308S|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.I308S|PARP9_uc003efh.3_Missense_Mutation_p.I343S|PARP9_uc003efj.2_Missense_Mutation_p.I308S	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	343	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCCAACTGTAATATCATGTGG	0.368000														27			27		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899151	133899151	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133899151G>A	uc003ytw.3	+	8	1575	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	512					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTTGAATGGAGGGAGACA	0.448000														30			34		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861861	89861861	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:89861861G>A	uc010len.3	+	5	1902	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	STEAP2_uc003uka.3_Intron|STEAP2_uc003ujz.3_Missense_Mutation_p.E466K|STEAP2_uc003ukc.3_Intron|STEAP2_uc003ukb.3_Missense_Mutation_p.E466K|STEAP2_uc003ukd.3_Intron	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	466					Golgi to plasma membrane transport|electron transport chain|endocytosis|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)					AAAAGGCTGGGAAAAGAGCCA	0.413000														25			7		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119731985	119731985	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:119731985C>T	uc002tln.1	+	4	669	c.537C>T	c.(535-537)gcC>gcT	p.A179A	MARCO_uc010yyf.1_Silent_p.A101A	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	179	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						AGAAGGGAGCCAAGGGGGCTA	0.567000														18			3		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757164	56757164	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:56757164G>A	uc001xch.3	+	4	972	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	229					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GCCCAGCAACGAGGAAAGCTG	0.557000														45			39		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59125680	59125680	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:59125680A>T	uc009wab.2	-	19	2499	c.2476T>A	c.(2476-2478)Ttg>Atg	p.L826M	MYSM1_uc001cza.3_Missense_Mutation_p.L232M|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	826					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E825K(1)|p.E825D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CACATTAACAATTCCTTTGTA	0.299000														28			7		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17367431	17367431	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17367431T>G	uc002nfs.1	-	8	1432	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	USHBP1_uc002nfr.1_Missense_Mutation_p.K66T|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.K376T	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	440							PDZ domain binding	p.M439V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGAGAGAATCTTCATTAGAGA	0.617000														96			28		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25255174	25255174	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:25255174A>G	uc001rgh.3	+	16	2027	c.933_splice	c.e16+1	p.K311_splice	LRMP_uc010sja.2_Splice_Site_p.K311_splice|LRMP_uc010sjc.2_Splice_Site_p.K311_splice|LRMP_uc001rgi.3_Splice_Site|LRMP_uc010sjb.2_Splice_Site_p.K258_splice|LRMP_uc010sjd.2_Splice_Site_p.K258_splice	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	367					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTAAACTCCAAGGTAATTACT	0.289000														12			6		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034533	94034533	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:94034533G>A	uc003ung.1	+	9	926	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	COL1A2_uc011kib.1_Intron|COL1A2_uc022ahm.1_Non-coding_Transcript|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	152					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACCCGGACGACCTGGTGAG	0.408000										HNSCC(75;0.22)				10			16		0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300126	101300126	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101300126T>C	uc003yjj.1	-	2	594	c.277A>G	c.(277-279)Agt>Ggt	p.S93G	RNF19A_uc003yjk.1_Missense_Mutation_p.S93G|RNF19A_uc003yjl.1_Missense_Mutation_p.S93G	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	93					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTTCAATACTTGCAATTCCA	0.363000														118			32		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169353	53169353	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53169353C>T	uc001sax.3	-	1	688	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	212	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.L211L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACTTGGTCTCCAGGACCTTG	0.567000														6			67		0	0	1	0	0
GPR77	27202	broad.mit.edu	37	19	47845030	47845030	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47845030A>C	uc002pgk.1	+	1	1045	c.974A>C	c.(973-975)aAa>aCa	p.K325T	GPR77_uc010ela.1_Missense_Mutation_p.K325T|GPR77_uc021uwn.1_Missense_Mutation_p.K325T	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	325					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GACAGCAAGAAATCCACCAGC	0.562000														48			19		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46400029	46400029	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46400029C>T	uc001ncn.1	+	27	3086	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	DGKZ_uc001nch.2_Silent_p.A815A|DGKZ_uc010rgq.2_Silent_p.A781A|DGKZ_uc010rgr.2_Silent_p.A803A|DGKZ_uc001ncj.2_Silent_p.A765A|DGKZ_uc001nck.2_Silent_p.A577A|DGKZ_uc001ncm.2_Silent_p.A798A|DGKZ_uc001ncl.2_Silent_p.A799A|DGKZ_uc009yky.1_Silent_p.A799A|DGKZ_uc010rgs.1_Silent_p.A776A|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.3_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	987					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTGAGGCTGCCAAGAGGAACG	0.617000														40			19		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103309512	103309512	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103309512A>T	uc001vpi.4	+	23	3162	c.3059A>T	c.(3058-3060)gAg>gTg	p.E1020V		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1020					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAAAAGAAGAGTTTACTGAA	0.299000														30			10		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419329	129419329	+	Silent	SNP	C	T	T	rs145149634		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129419329C>T	uc021zfb.1	+	3	513	c.408C>T	c.(406-408)atC>atT	p.I136I	LAMA2_uc003qbn.3_Silent_p.I136I|LAMA2_uc003qbo.3_Silent_p.I136I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	136	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTCCAGATCGCGTATGTGA	0.403000														0			42		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124207093	124207093	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124207093G>A	uc003ehg.3	+	28	4448	c.4321G>A	c.(4321-4323)Gat>Aat	p.D1441N	KALRN_uc010hrv.1_Missense_Mutation_p.D1432N|KALRN_uc003ehf.1_Missense_Mutation_p.D1441N|KALRN_uc011bjy.1_Missense_Mutation_p.D1432N|KALRN_uc003ehh.1_Missense_Mutation_p.D787N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1441	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGCTCAAGGATGGCCTGGA	0.532000														43			37		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104155080	104155080	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:104155080G>A	uc001tjw.3	+	65	7437	c.7251G>A	c.(7249-7251)acG>acA	p.T2417T	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2417	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.T2417T(2)|p.T2417M(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCCCTAGACGGAGACCAGGT	0.512000														5			27		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212427	113212427	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:113212427C>T	uc010mtz.3	-	23	4352	c.4015G>A	c.(4015-4017)Ggt>Agt	p.G1339S	SVEP1_uc010mua.1_Missense_Mutation_p.G1339S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1339	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATCGGGTACCCAAAAATCCA	0.458000														79			125		0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8434176	8434176	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8434176G>C	uc002mjq.1	+	3	816	c.621G>C	c.(619-621)caG>caC	p.Q207H	ANGPTL4_uc002mjr.1_Intron|ANGPTL4_uc010xkc.1_Missense_Mutation_p.Q40H	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	207	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCCAGCCTCAGGGGTCTCCGC	0.542000														26			14		0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51584253	51584253	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:51584253C>T	uc001rxy.3	-	4	875	c.683G>A	c.(682-684)gGa>gAa	p.G228E	POU6F1_uc001rxz.3_Missense_Mutation_p.G228E|POU6F1_uc001rya.3_Missense_Mutation_p.G228E	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	228					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGCTCGCCTCCCACAAACTC	0.572000														54			60		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951344	10951344	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10951344G>A	uc002yip.1	-	9	736	c.368C>T	c.(367-369)cCt>cTt	p.P123L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105L|TPTE_uc002yir.1_Missense_Mutation_p.P85L|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATACTCCAAAGGAATATAAAG	0.323000														102			16		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461400	11461400	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11461400A>C	uc001qzf.1	-	2	551	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PRB4_uc001qzt.3_Missense_Mutation_p.S173A	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	236	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCACTTCGGGACTTGTTTCCT	0.587000										HNSCC(22;0.051)				345			20		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130312089	130312089	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130312089G>A	uc010htl.3	+	15	4494	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1488	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAGATGAGGGATCTCAGGTA	0.363000														1			39		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17430032	17430032	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17430032C>T	uc001mnc.3	-	22	2853	c.2727G>A	c.(2725-2727)agG>agA	p.R909R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	909	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGTACCCTCCCTCTGGATGG	0.547000														72			45		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163898	12163898	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:12163898C>T	uc003nac.3	+	8	7540	c.7361C>T	c.(7360-7362)cCt>cTt	p.P2454L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2454					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTACAAACCCTGCTGGAGTG	0.527000														43			39		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759387	55759387	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:55759387G>A	uc010spk.2	+	0	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GCTGCAGTTGGATTTCTGTGC	0.438000														2			22		0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14704535	14704535	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:14704535G>A	uc010uzd.2	-	6	666	c.520C>T	c.(520-522)Cct>Tct	p.P174S	PARN_uc010uzc.2_Missense_Mutation_p.P113S|PARN_uc010uze.2_Missense_Mutation_p.P128S|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	174					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGATCCTCAGGAATCGTGACA	0.403000														45			66		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640556	58640556	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58640556G>A	uc002qrn.3	-	3	552	c.315C>T	c.(313-315)ccC>ccT	p.P105P	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.P105P	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGGTAAGGCGGGGTCACAAT	0.453000														144			59		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796757	43796757	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43796757G>A	uc002zbb.2	-	10	1288	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	TMPRSS3_uc002zay.2_Missense_Mutation_p.P120S|TMPRSS3_uc002zaz.2_Missense_Mutation_p.P236S|TMPRSS3_uc002zba.2_Missense_Mutation_p.P236S|TMPRSS3_uc002zbc.2_Missense_Mutation_p.P362S	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	363	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GAAATCAAAGGGACGGCCGCG	0.602000														152			121		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145040857	145040857	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:145040857G>A	uc003ijo.4	-	2	330	c.214C>T	c.(214-216)Cct>Tct	p.P72S	GYPA_uc003ijn.2_Missense_Mutation_p.P72S|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.P39S|GYPA_uc003ijp.4_Intron|GYPA_uc010ioq.3_Missense_Mutation_p.P72S|GYPA_uc010ior.3_Intron|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	72					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TCTTCTGGAGGGTAAACAGTT	0.398000														45			12		0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2924713	2924713	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:2924713C>T	uc001lwx.3	+	1	356	c.138C>T	c.(136-138)atC>atT	p.I46I	SLC22A18AS_uc001lwv.4_5'UTR|SLC22A18AS_uc001lww.4_Non-coding_Transcript|SLC22A18_uc001lwy.3_Silent_p.I46I	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	46					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTTCTCCATCGTGCCAGTGA	0.642000														47			15		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306125	179306125	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179306125G>A	uc003mlh.3	-	8	1524	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	TBC1D9B_uc003mli.3_Missense_Mutation_p.R497C|TBC1D9B_uc003mlj.3_Missense_Mutation_p.R497C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	497						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCTGTGCGGTACATGCAC	0.617000														18			6		0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204320166	204320166	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:204320166T>C	uc002vad.3	-	8	1521	c.1296A>G	c.(1294-1296)aaA>aaG	p.K432K	RAPH1_uc002vae.3_Silent_p.K484K|RAPH1_uc002vaf.3_Silent_p.K484K	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	432	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCTTTGCTTTTCCTTTGG	0.403000														126			12		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37584326	37584326	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37584326T>C	uc002yvg.3	+	6	914	c.835T>C	c.(835-837)Tca>Cca	p.S279P	DOPEY2_uc011aeb.2_Missense_Mutation_p.S279P	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	279					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGCATTCTCTCAGCCGCCAC	0.483000														91			5		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227705	49227705	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49227705G>A	uc002pki.3	-	9	2630	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L	RASIP1_uc002pkh.3_Silent_p.L72L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	811	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGTCCAAGACGAGGTCCAGGT	0.562000														42			49		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122221238	122221238	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:122221238C>T	uc022akp.1	-	6	1752	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	CADPS2_uc003vkg.4_Missense_Mutation_p.G144R|CADPS2_uc022akq.1_Missense_Mutation_p.G444R|CADPS2_uc010lkq.3_Missense_Mutation_p.G444R|CADPS2_uc022akr.1_Missense_Mutation_p.G444R	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	444	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTCACCCTTCCCAGTTCTTTA	0.458000														71			19		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843560	100843560	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100843560C>T	uc003uyc.3	-	2	410	c.243G>A	c.(241-243)agG>agA	p.R81R	MOGAT3_uc010lhr.3_Silent_p.R81R	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	81					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGCCCGGTTCCTTATCCACT	0.557000														127			87		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10473273	10473273	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10473273C>T	uc001arc.3	+	7	899	c.809C>T	c.(808-810)tCc>tTc	p.S270F	PGD_uc010oak.2_Missense_Mutation_p.S248F	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	270					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ACCGCCATCTCCGCCCTGGAA	0.542000														44			41		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62936939	62936939	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:62936939A>G	uc001sre.3	+	19	2818	c.2427A>G	c.(2425-2427)atA>atG	p.I809M	MON2_uc010ssn.2_Missense_Mutation_p.I809M|MON2_uc009zqj.3_Missense_Mutation_p.I809M|MON2_uc010ssl.2_Missense_Mutation_p.I737M|MON2_uc010ssm.2_Missense_Mutation_p.I786M|MON2_uc001srf.3_Missense_Mutation_p.I572M	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	809					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGCACCGAATAGAAATTCTGT	0.323000														33			5		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651043	142651043	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142651043C>T	uc003wcb.3	-	9	1135	c.925_splice	c.e9-1	p.E309_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	309					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGCCATTTCCTTAGAGGAG	0.537000														44			26		0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546297	233546298	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233546297_233546298CC>TT	uc002vtc.3	+	3	796_797	c.588_589CC>TT	c.(586-591)gtccaa>gtTTaa	p.Q197*	EFHD1_uc010fyf.3_Nonsense_Mutation_p.Q101*|EFHD1_uc002vtd.3_Nonsense_Mutation_p.Q85*	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	197							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CTCTGCAGGTCCAAGCCTTGTC	0.569000														59			77		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20555495	20555495	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:20555495G>A	uc003gpr.1	+	25	2833	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	SLIT2_uc003gps.1_Missense_Mutation_p.E869K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	877	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGTGAAGTCGGAATATAAGGA	0.443000														34			22		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	865681	865681	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:865681T>C	uc003jbq.3	-	14	1708	c.1541A>G	c.(1540-1542)gAg>gGg	p.E514G	BRD9_uc003jbl.3_Missense_Mutation_p.E398G|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.E461G|BRD9_uc003jbo.3_Missense_Mutation_p.E418G	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	514							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGGGTCCAGCTCCTTCTTCAC	0.627000														231			34		0	0	1	0	0
ADTRP	84830	broad.mit.edu	37	6	11723677	11723677	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:11723677A>C	uc011dip.2	-	5	905	c.617T>G	c.(616-618)cTc>cGc	p.L206R	ADTRP_uc003naa.3_Non-coding_Transcript|ADTRP_uc003nab.3_Missense_Mutation_p.L188R	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	188						integral to membrane											CAAGAGGCTGAGTTTGGCAAA	0.498000														197			40		0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820784	10820784	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:10820784A>T	uc001mjb.3	-	19	3046	c.1894T>A	c.(1894-1896)Tgc>Agc	p.C632S	EIF4G2_uc009ygf.3_Missense_Mutation_p.C838S|EIF4G2_uc001mjc.3_Missense_Mutation_p.C632S|EIF4G2_uc001mjd.3_Missense_Mutation_p.C800S	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	838	MI.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTGTTATAGCAGTGCACCTGG	0.403000														60			23		0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818688	166818688	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:166818688A>G	uc001gdt.1	+	4	992	c.872A>G	c.(871-873)gAa>gGa	p.E291G	POGK_uc010ple.1_Missense_Mutation_p.E206G|POGK_uc010plf.1_Missense_Mutation_p.E173G	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	291	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AAAGCTCTCGAAATCGCCCAG	0.522000														51			6		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413134	24413134	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:24413134C>T	uc001bin.4	-	15	1961	c.1798_splice	c.e15+1	p.A600_splice	MYOM3_uc001bim.4_Splice_Site_p.A257_splice|MYOM3_uc001bio.3_Splice_Site_p.A600_splice|MYOM3_uc001bip.1_Splice_Site_p.A257_splice	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	600										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGGAGGGTACCTGGCGGGCCC	0.642000														59			9		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27720146	27720146	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27720146G>A	uc002rky.3	+	1	162	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FNDC4_uc002rkx.3_5'Flank|GCKR_uc010ezd.3_Silent_p.E32E|GCKR_uc010ylu.2_5'UTR	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	32					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CAATCACGGAGAAGTCAAACC	0.537000														30			49		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32049991	32049991	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32049991A>G	uc003nzl.2	-	8	3760	c.3558T>C	c.(3556-3558)ttT>ttC	p.F1186F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1273	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGTGTCAAACTGGCCCT	0.602000														54			6		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37167299	37167299	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37167299A>C	uc011cpa.1	-	34	7481	c.7250T>G	c.(7249-7251)cTt>cGt	p.L2417R	C5orf42_uc011coy.1_Missense_Mutation_p.L917R|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L1492R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2417										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGTGGGATAAGTTGTGTTTT	0.318000														20			8		0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17168147	17168147	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:17168147T>G	uc002grd.3	-	5	707	c.590A>C	c.(589-591)aAc>aCc	p.N197T	COPS3_uc010vwv.2_Missense_Mutation_p.N177T|COPS3_uc010vww.2_Missense_Mutation_p.N67T	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	197	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	p.K196N(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCTTTCAAAGTTCTTCAGCCC	0.358000														82			5		0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75311162	75311162	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75311162T>C	uc002azn.2	+	6	757	c.570T>C	c.(568-570)agT>agC	p.S190S	SCAMP5_uc002azl.2_Silent_p.S182S|SCAMP5_uc002azm.2_Silent_p.S182S|SCAMP5_uc002azk.2_Silent_p.S182S|SCAMP5_uc010uly.2_Silent_p.S111S	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	182					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GTGGGGGGAGTTTCAGCAAAG	0.537000														20			11		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154091211	154091211	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154091211A>C	uc001fdw.3	-	10	1472	c.1400T>G	c.(1399-1401)cTt>cGt	p.L467R	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.L467R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	467						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTGGGTGTAAGCATGATGGG	0.348000														87			8		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898661	160898661	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160898661G>A	uc002ube.2	-	2	754	c.542C>T	c.(541-543)cCc>cTc	p.P181L	PLA2R1_uc010zcp.2_Missense_Mutation_p.P181L|PLA2R1_uc002ubf.3_Missense_Mutation_p.P181L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	181	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATACTGGAAGGGAAACATACA	0.433000														75			23		0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137484287	137484287	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:137484287T>C	uc003erm.2	+	0	1154	c.661T>C	c.(661-663)Ttc>Ctc	p.F221L		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	221					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CTACATCCTCTTCCCAGGCAT	0.647000														73			18		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73714956	73714956	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73714956T>G	uc001our.3	-	5	1095	c.740A>C	c.(739-741)aAc>aCc	p.N247T	UCP3_uc001ous.2_Missense_Mutation_p.N247T	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	247					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGGAGGTGAGTTCATATACCG	0.602000														64			16		0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7743386	7743386	+	Missense_Mutation	SNP	C	T	T	rs139191722		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7743386C>T	uc002mhh.1	+	4	408	c.383C>T	c.(382-384)tCc>tTc	p.S128F	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	128						integral to membrane		p.S128F(2)		endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GTCTCAAACTCCGTACAAGCA	0.547000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			44		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348019	38348019	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38348019T>G	uc003cib.2	+	0	575	c.502T>G	c.(502-504)Tcg>Gcg	p.S168A	SLC22A14_uc010hhc.1_Missense_Mutation_p.S168A|SLC22A14_uc003cia.2_Missense_Mutation_p.S168A|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	168						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TAAGAAGCGATCGCTGATCAA	0.502000														66			12		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506543	11506544	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11506543_11506544CC>TT	uc001qzw.1	-	3	527_528	c.490_491GG>AA	c.(490-492)gga>AAa	p.G164K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	165	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGGTTACCTCCTTGTGGGGGT	0.609000														261			15		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000117	56000117	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56000117G>A	uc010rjc.2	-	0	545	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATTGATGAGTGGCATGTAGAC	0.443000														76			55		0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661593	2661594	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:2661593_2661594CC>TT	uc010ick.3	+	8	1285_1286	c.1284_1285CC>TT	c.(1282-1287)gacccc>gaTTcc	p.P429S	FAM193A_uc003gfd.3_Missense_Mutation_p.P229S|FAM193A_uc011bvm.2_Missense_Mutation_p.P253S|FAM193A_uc011bvn.2_Missense_Mutation_p.P229S|FAM193A_uc010icl.3_Missense_Mutation_p.P229S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P83S	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	229										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCAC	0.525000														14			57		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326065	57326065	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57326065C>T	uc002qnu.2	-	6	4096	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1220K|PEG3_uc002qnv.2_Missense_Mutation_p.E1249K|PEG3_uc002qnw.2_Missense_Mutation_p.E1125K|PEG3_uc002qnx.2_Missense_Mutation_p.E1123K|PEG3_uc010etr.2_Missense_Mutation_p.E1249K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1249					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)		AAATCATCTTCCCTATGAAGT	0.488000														49			4		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58018240	58018241	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:58018240_58018241GG>AA	uc002emv.4	+	2	459_460	c.422_423GG>AA	c.(421-423)ggg>gAA	p.G141E	TEPP_uc002emw.4_Missense_Mutation_p.G141E	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	141						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						ACACTCCTTGGGGTCCCCAACA	0.525000														10			60		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605903	5605903	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:5605903C>T	uc004fqo.3	+	4	4677	c.3943C>T	c.(3943-3945)Cct>Tct	p.P1315S	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1315					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						TAAAGTCATTCCTTTGACAAC	0.438000														6			100		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621282	156621282	+	Silent	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156621282C>A	uc001fpp.3	+	6	1434	c.1098C>A	c.(1096-1098)tcC>tcA	p.S366S	BCAN_uc001fpo.3_Silent_p.S366S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	366					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAGgcctccaacccagcct	0.587000														31			20		2.4624e-09	2.47269e-09	1	1	0
CBLL1	79872	broad.mit.edu	37	7	107399133	107399133	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:107399133C>T	uc003veq.3	+	5	1316	c.986C>T	c.(985-987)tCg>tTg	p.S329L	CBLL1_uc011kme.2_Missense_Mutation_p.S208L|CBLL1_uc011kmf.2_Missense_Mutation_p.S328L	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	329	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCAGTGGTATCGCACCCTCAT	0.532000														85			77		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053636	13053636	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:13053636C>T	uc003nah.2	+	4	663	c.290C>T	c.(289-291)tCc>tTc	p.S97F	PHACTR1_uc011dir.2_Missense_Mutation_p.S97F|PHACTR1_uc010jpc.3_Missense_Mutation_p.S97F|PHACTR1_uc003nag.2_Missense_Mutation_p.S97F	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	97						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CGTTCTGACTCCCTCGTCCCA	0.493000														15			13		0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26998699	26998699	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26998699T>G	uc001isv.3	+	5	513	c.467_splice	c.e5+2	p.R156_splice	PDSS1_uc001isw.3_Splice_Site_p.R156_splice	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	156					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAACTCCCGGTGAGCTCTTTT	0.393000														75			16		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11333704	11333704	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11333704A>G	uc002mqs.4	-	24	3075	c.3034T>C	c.(3034-3036)Ttt>Ctt	p.F1012L	DOCK6_uc010xlq.2_Missense_Mutation_p.F351L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1012					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTGAAGACAAAGCCCCGGTCC	0.617000														73			16		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967945	72967945	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:72967945G>A	uc003pga.3	+	16	2965	c.2888G>A	c.(2887-2889)gGa>gAa	p.G963E	RIMS1_uc011dyb.2_Missense_Mutation_p.G588E|RIMS1_uc003pgc.3_Missense_Mutation_p.G589E|RIMS1_uc010kaq.3_Missense_Mutation_p.G436E|RIMS1_uc011dyc.2_Missense_Mutation_p.G437E|RIMS1_uc010kar.3_Missense_Mutation_p.G356E|RIMS1_uc011dyd.2_Missense_Mutation_p.G422E|RIMS1_uc003pge.3_Missense_Mutation_p.G180E|RIMS1_uc003pgf.3_Missense_Mutation_p.G179E|RIMS1_uc003pgi.3_Missense_Mutation_p.G179E|RIMS1_uc003pgg.3_Missense_Mutation_p.G180E|RIMS1_uc003pgh.3_Missense_Mutation_p.G179E|RIMS1_uc003pgd.3_Missense_Mutation_p.G180E|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.G589E|RIMS1_uc010kas.1_Missense_Mutation_p.G422E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	963					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATGATCAGGGAAAGCCGCGT	0.433000														2			17		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53204596	53204596	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53204596C>T	uc001saz.3	-	2	904	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	228						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ATCTCCTCTTCATACCTGGGG	0.488000														4			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058876	9058876	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9058876C>T	uc002mkp.3	-	2	28774	c.28570G>A	c.(28570-28572)Gaa>Aaa	p.E9524K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9526	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTGGTTTCCACATGGGAC	0.473000														58			35		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114290689	114290689	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:114290689G>A	uc003ibe.4	+	42	11438	c.11338G>A	c.(11338-11340)Gaa>Aaa	p.E3780K	ANK2_uc003ibd.4_Missense_Mutation_p.E1686K|ANK2_uc003ibf.4_Missense_Mutation_p.E1695K|ANK2_uc011cgc.2_Missense_Mutation_p.E871K|ANK2_uc003ibg.4_Missense_Mutation_p.E679K|ANK2_uc003ibh.4_Missense_Mutation_p.E369K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3747					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGGAACAGAAACATCAGA	0.483000														60			25		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956005	48956006	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48956005_48956006CC>TT	uc002pjd.2	+	6	1297_1298	c.1064_1065CC>TT	c.(1063-1065)ccc>cTT	p.P355L	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	355						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CACGTGGCCCCCGTGACCTCCG	0.653000														58			41		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157789812	157789812	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157789812A>T	uc001frg.3	-	0	129	c.16T>A	c.(16-18)Ttg>Atg	p.L6M	FCRL1_uc001frh.3_Missense_Mutation_p.L6M|FCRL1_uc001fri.3_Missense_Mutation_p.L6M|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	6						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATCAACAGCAACAGCCTCGGC	0.532000														50			9		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94821285	94821285	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:94821285A>C	uc011lgk.2	+	25	2628	c.2557_splice	c.e25-1	p.K853_splice	TMEM67_uc010maw.2_Splice_Site_p.K559_splice|TMEM67_uc003yga.4_Splice_Site_p.K772_splice|TMEM67_uc011lgl.2_Splice_Site_p.K252_splice	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	853					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTACATTAGAAAAATGGTCC	0.299000														36			3		0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143352383	143352383	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:143352383T>C	uc003iix.4	-	4	625	c.30A>G	c.(28-30)gaA>gaG	p.E10E	INPP4B_uc003iiw.4_Silent_p.E10E|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc003iiz.3_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	10					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCTGCCCTTCTTCTGATGCCC	0.418000														28			14		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32709223	32709223	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32709223G>A	uc003obx.3	+	0	61	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	1					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAAGAAGATGATCCTAAACA	0.537000														12			5		0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274904	98274904	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:98274904G>A	uc002syb.2	-	5	851	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	215						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TTGATTGTCCGGACAACCTCA	0.622000														18			9		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808020	77808020	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:77808020T>C	uc002jxe.3	-	4	1584	c.1421A>G	c.(1420-1422)gAc>gGc	p.D474G		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	474	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCAGCGCAAGTCTATGGGTTC	0.736000														24			8		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35569473	35569473	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35569473C>T	uc002xgh.2	-	2	517	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	106	SAM.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGAACCAATCGCTGGATATA	0.323000														26			26		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12628378	12628378	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12628378C>T	uc001auc.3	-	5	1367	c.900G>A	c.(898-900)ggG>ggA	p.G300G	DHRS3_uc001aub.3_Silent_p.G215G	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	300					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTATGTCCGCCCTTTGAAAG	0.532000														85			73		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872807	213872807	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:213872807C>T	uc002vem.3	-	8	1026	c.857_splice	c.e8-1	p.G286_splice	IKZF2_uc010fuu.3_Splice_Site_p.G141_splice|IKZF2_uc002vej.3_Splice_Site_p.G233_splice|IKZF2_uc002vek.3_Splice_Site|IKZF2_uc010fuv.3_Splice_Site_p.G212_splice|IKZF2_uc002vel.3_Splice_Site_p.G207_splice|IKZF2_uc010fuw.3_Splice_Site_p.G60_splice|IKZF2_uc010fux.3_Splice_Site_p.G60_splice|IKZF2_uc010fuy.3_Splice_Site_p.G214_splice|IKZF2_uc002ven.3_Splice_Site_p.G260_splice|IKZF2_uc002vei.3_Splice_Site_p.G64_splice	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGAGCTTTTCCCCTGGAAGGG	0.373000														11			11		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36482513	36482513	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:36482513T>G	uc002hpz.3	-	10	6960	c.6939A>C	c.(6937-6939)caA>caC	p.Q2313H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2313						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGAAGGTCCTTGTAGTTCTC	0.527000														114			30		0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74659762	74659762	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74659762T>G	uc002sle.3	-	1	260	c.143A>C	c.(142-144)gAg>gCg	p.E48A	RTKN_uc002slc.3_Missense_Mutation_p.E35A|RTKN_uc002sld.3_5'UTR|RTKN_uc010ffe.1_Missense_Mutation_p.E48A|RTKN_uc010fff.1_Missense_Mutation_p.E35A|RTKN_uc010ffg.1_Missense_Mutation_p.E48A	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	48					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCGGATCTCATGGTCTAG	0.602000														64			15		0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	618100	618100	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:618100C>T	uc010wys.2	+	3	490	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	CLUL1_uc002kkp.3_Silent_p.L34L|CLUL1_uc002kkq.3_Silent_p.L34L	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	34					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAGTGAAAACCTGAAGAGTAC	0.458000														12			22		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417538	14417538	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:14417538G>A	uc002yiy.3	+	2		c.2813G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCAAATTGTGGAATTTTTACT	0.299000														11			3		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058964	152058964	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152058964C>T	uc001ezo.1	-	2	1259	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	398							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCATGGGCCTCAGGACCTC	0.473000														52			69		0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59604745	59604745	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59604745T>G	uc001noi.3	-	5	821	c.773A>C	c.(772-774)aAg>aCg	p.K258T		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	258					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTTCCCCTGCTTAATCTCATT	0.468000														62			19		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906513	48906513	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48906513G>A	uc002rwp.2	+	10	3595	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N	STON1-GTF2A1L_uc021vhf.1_Intron|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.D1114N|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.D457N|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.D423N	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1114					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTATTTGAAAGATGGTGTTAT	0.353000														30			45		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951568	30951568	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30951568C>T	uc003aig.1	-	3	784	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	GAL3ST1_uc003aih.1_Missense_Mutation_p.R215Q|GAL3ST1_uc003aii.1_Missense_Mutation_p.R215Q|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R215Q	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	215					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAGCAGGTTTCGGAGGTAGTG	0.627000														41			55		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936527	30936527	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:30936527C>T	uc002nsu.1	+	1	2196	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	ZNF536_uc010edd.1_Silent_p.S686S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGCCGCTCCACCACGCCGG	0.716000														17			14		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921776	78921776	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:78921776C>T	uc002bed.1	-	4	983	c.871G>A	c.(871-873)Gat>Aat	p.D291N	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D109N	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	291					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGAGGCACATCGAGGGAGGTG	0.572000														1			41		0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185678	41185678	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41185678G>A	uc003oqb.3	-	0		c.8C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		CAGGAAGAGGGTCTGTCCTTA	0.527000														42			7		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359700	99359700	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99359700T>A	uc003urv.2	-	10	1324	c.1217A>T	c.(1216-1218)aAg>aTg	p.K406M	CYP3A4_uc003urw.2_Missense_Mutation_p.K405M|CYP3A4_uc011kiz.2_Missense_Mutation_p.K365M	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	406					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTCCAGTACTTTGGGTCACG	0.517000														143			4		0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995348	32995348	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:32995348C>T	uc003cfg.1	+	1	602	c.434C>T	c.(433-435)tCc>tTc	p.S145F	CCR4_uc021wuw.1_Missense_Mutation_p.S145F	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	145					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GCGGTGTTTTCCTTGAGGGCA	0.483000														106			36		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032337	9032337	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9032337C>T	uc003brf.1	-	20	3421	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	SRGAP3_uc003brg.1_Silent_p.A891A	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	915					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A915V(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCCGAACGTCGCCATCCTCC	0.657000			T	RAF1	pilocytic astrocytoma									21			6		0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118784020	118784020	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:118784020C>T	uc004erv.3	-	4	835	c.570G>A	c.(568-570)tcG>tcA	p.S190S	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.S190S|SEPT6_uc004ert.3_Silent_p.S190S|SEPT6_uc004eru.3_Silent_p.S190S|SEPT6_uc004erw.3_Silent_p.S132S|SEPT6_uc011mtv.1_Silent_p.S132S|SEPT6_uc011mtw.1_Silent_p.S220S	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	190					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCACTCTTCGAAATGGCAT	0.478000			T	MLL	AML									3			78		0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34190081	34190081	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34190081T>C	uc002hke.1	-	7	823	c.674A>G	c.(673-675)gAg>gGg	p.E225G	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E185G|C17orf66_uc010wcm.1_Missense_Mutation_p.E191G	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	225							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCATTTTTCTCCTTCAGCTG	0.537000														7			67		0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31549336	31549336	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31549336C>T	uc003nuk.3	-	3	288	c.280_splice	c.e3+1	p.G94_splice	LTB_uc003nul.3_Splice_Site_p.*78_splice	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	94					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	AGGTCCTTACCTATGAGGTGG	0.552000														73			52		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104084314	104084314	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:104084314G>A	uc001tjw.3	+	29	3481	c.3295G>A	c.(3295-3297)Ggg>Agg	p.G1099R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1099	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAAGGTGGATGGGGTAAGAGC	0.413000														2			20		0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74299521	74299521	+	RNA	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:74299521T>C	uc011kfj.2	-	6		c.762A>G						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGCTCTGGCGTTGCTCTCTTC	0.532000														153			5		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110446	7110446	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7110446G>A	uc001mfc.2	+	0	282	c.95G>A	c.(94-96)gGc>gAc	p.G32D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	32	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCAAGTATGGCCGCATCGTC	0.592000														13			11		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39546732	39546732	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39546732C>T	uc001uwx.3	-	4	368	c.230_splice	c.e4-1	p.G77_splice	STOML3_uc010tez.2_Splice_Site_p.G68_splice	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	77						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AGGATCAAACCTATGAGAGAA	0.393000														32			36		0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687431	3687431	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3687431T>C	uc001lyf.3	-	4	1331	c.1259A>G	c.(1258-1260)aAg>aGg	p.K420R	CHRNA10_uc010qxt.2_Missense_Mutation_p.K214R|CHRNA10_uc010qxu.2_Missense_Mutation_p.K214R	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	420					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCCAGGCGCTTCCAGTCCTC	0.637000														103			23		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550835	169550835	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169550835C>T	uc003fgb.3	+	3	1394	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	465										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AATTTGGATTCCCTAGTGAAT	0.428000														69			30		0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64153079	64153079	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64153079A>C	uc001xgj.3	-	2	1164	c.1070T>G	c.(1069-1071)aTt>aGt	p.I357S		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 1 (SGPP1), mRNA.	357						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGTCACAGTAATGGGGGGCCC	0.398000														58			18		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110402868	110402868	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110402868A>G	uc003hzk.3	+	3	1151	c.1096A>G	c.(1096-1098)Agc>Ggc	p.S366G	SEC24B_uc003hzl.3_Intron|SEC24B_uc011cfp.2_Missense_Mutation_p.S397G|SEC24B_uc011cfq.2_Missense_Mutation_p.S366G|SEC24B_uc011cfr.2_Intron	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	366					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TAACCAAGCTAGCTCCGCACC	0.428000														103			33		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510963	110510963	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110510963G>A	uc003yne.3	+	66	10895	c.10791G>A	c.(10789-10791)atG>atA	p.M3597I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3597					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGAATCATGAGTTACAATG	0.408000										HNSCC(38;0.096)				31			6		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36105272	36105272	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36105272T>C	uc003jkb.1	-	16	2340	c.1925A>G	c.(1924-1926)aAc>aGc	p.N642S	AK094621_uc003jka.1_5'Flank	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	642						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAGTCCTGTTATTAGCCCT	0.418000														121			9		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380223	231380223	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:231380223T>G	uc002vqt.3	+	24	2649	c.2508T>G	c.(2506-2508)taT>taG	p.Y836*	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	836					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ttgctgcatatcgagctaaag	0.403000														11			5		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128438	90128438	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:90128438A>T	uc010cje.3	-	6	793	c.773T>A	c.(772-774)cTt>cAt	p.L258H	PRDM7_uc002fqo.3_Missense_Mutation_p.L52H|PRDM7_uc010cjf.3_Missense_Mutation_p.L141H|PRDM7_uc010cjg.1_Missense_Mutation_p.L52H|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	258	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCATACTCCAAGCCCAGCCTG	0.577000														29			8		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39802080	39802080	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39802080A>T	uc021olw.1	+	0	5140	c.5140A>T	c.(5140-5142)Aaa>Taa	p.K1714*	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3279					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTTCCAGAGAAACTGTTCAA	0.443000														99			9		0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331417	40331417	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40331417G>A	uc002omn.3	-	1	135	c.21C>T	c.(19-21)ccC>ccT	p.P7P	FBL_uc002omm.1_5'Flank|FBL_uc002omo.2_Silent_p.P7P|FBL_uc010egr.3_Silent_p.P7P	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	7					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CACCCCCACGGGGACTGAATC	0.597000														2			6		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227480	38227480	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38227480G>A	uc009vvi.3	-	2	533	c.447C>T	c.(445-447)ccC>ccT	p.P149P	EPHA10_uc001cbw.4_Silent_p.P149P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	149						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATTTTGCGGGGCCGGCTGC	0.667000														83			14		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52570018	52570018	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:52570018T>C	uc002xws.2	-	10	1971	c.1633A>G	c.(1633-1635)Aga>Gga	p.R545G	BCAS1_uc010zza.1_Missense_Mutation_p.R211G|BCAS1_uc010zzb.1_Missense_Mutation_p.R471G|BCAS1_uc010gim.2_Missense_Mutation_p.R401G|BCAS1_uc002xwt.2_Missense_Mutation_p.R531G|BCAS1_uc010gil.1_Missense_Mutation_p.R467G	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	545						cytoplasm	protein binding	p.R545I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTCAGGTCTCTTTTGGAGC	0.547000														80			15		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77595591	77595591	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:77595591T>A	uc011bgk.2	+	7	1692	c.1049T>A	c.(1048-1050)tTt>tAt	p.F350Y	ROBO2_uc021xat.1_Missense_Mutation_p.F362Y|ROBO2_uc003dpy.4_Missense_Mutation_p.F346Y|ROBO2_uc003dpz.3_Missense_Mutation_p.F350Y|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	346	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGCTGTTTTTTGGCAGAAA	0.488000														147			318		0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21500139	21500139	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21500139A>G	uc001vzh.3	+	3	604	c.416A>G	c.(415-417)aAg>aGg	p.K139R	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	139						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGAGTGGCAAGGGCAAGGGC	0.537000														56			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447794	179447794	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179447794C>T	uc021vsy.1	-	261	58257	c.58032G>A	c.(58030-58032)atG>atA	p.M19344I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M13039I|TTN_uc021vta.1_Missense_Mutation_p.M12972I|TTN_uc021vtb.1_Missense_Mutation_p.M12847I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20271	Fibronectin type-III 40.						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)			GCTGCATGGCCATCTTTATGC	0.443000														11			8		0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253891	183253891	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:183253891G>A	uc001gqc.2	-	5	715	c.483C>T	c.(481-483)agC>agT	p.S161S	NMNAT2_uc001gqb.2_Silent_p.S156S|NMNAT2_uc001gqd.3_Silent_p.S56S	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	161					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGCAGATCCGGCTGAGGCTTT	0.542000														46			46		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969507	160969507	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160969507G>A	uc009wtt.3	-	6	995	c.725C>T	c.(724-726)gCc>gTc	p.A242V	F11R_uc010pjv.2_Missense_Mutation_p.A193V|F11R_uc010pjw.2_Missense_Mutation_p.A246V|F11R_uc001fxf.4_Missense_Mutation_p.A242V	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	242					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TACAAGGACGGCTGCCACGAT	0.532000														43			12		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39307973	39307973	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39307973C>T	uc002oji.3	-	4	591	c.506G>A	c.(505-507)gGg>gAg	p.G169E	HNRNPL_uc010xuk.1_3'UTR	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	71	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding	p.A169T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AATGCAGCCCCCATGGACGGC	0.672000														1			2		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202128	22202128	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22202128T>C	uc009vqd.3	-	24	3339	c.3299A>G	c.(3298-3300)gAg>gGg	p.E1100G	HSPG2_uc001bfj.3_Missense_Mutation_p.E1099G	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1099	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACACCTGCTCTCAGCGGGCTG	0.652000														92			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582947	179582947	+	Splice_Site	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179582947T>A	uc021vsy.1	-	83	21278	c.21053_splice	c.e83-1	p.E7018_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E3679_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7945	Ig-like 52.						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)			AGTACGGTGGTTCTATGGTAC	0.398000														24			14		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039521	55039521	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55039521G>A	uc003pcl.3	+	0	451	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	46					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTGTGGAGGGAATACCTGCA	0.537000														68			64		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274869	29274869	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29274869G>A	uc011dln.2	+	0	403	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GACTATTATGGATCCCCGTGC	0.502000														50			38		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207627817	207627817	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207627817C>T	uc001hfw.3	+	0	173	c.54C>T	c.(52-54)gtC>gtT	p.V18V	CR2_uc001hfv.3_Silent_p.V18V|CR2_uc009xch.3_Silent_p.V18V	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	18					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACCGGGGGTCCTCGGTGAGC	0.711000														9			7		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909216	909216	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:909216C>T	uc001ace.3	+	12	1629	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F	PLEKHN1_uc001acd.3_Missense_Mutation_p.L480F|PLEKHN1_uc001acf.3_Missense_Mutation_p.L445F	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	532										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTGCAGTTCCTCAGTGCCAT	0.677000														13			27		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22167505	22167505	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22167505T>G	uc003xbn.2	+	14	1866	c.1718T>G	c.(1717-1719)aTt>aGt	p.I573S	PIWIL2_uc011kzf.1_Missense_Mutation_p.I573S|PIWIL2_uc010ltv.2_Missense_Mutation_p.I573S	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	573					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGGAAAGAATTAACTTAAAA	0.358000														49			26		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963163	106963163	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106963163G>A	uc021ser.1	-	268		c.10567C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAC	0.577000														80			25		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483333	20483333	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20483333G>A	uc010tky.2	-	0	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACACCAAGGAATAGTTCTG	0.378000														15			30		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47615007	47615007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47615007C>T	uc002xtx.4	+	24	3549	c.3397C>T	c.(3397-3399)Cga>Tga	p.R1133*	ARFGEF2_uc010zyf.2_Nonsense_Mutation_p.R426*	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1133					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACAGTGGTCTCGAATATGGCA	0.388000														45			29		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84226688	84226688	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84226688G>A	uc004alz.3	-	12	1721	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	TLE1_uc004aly.3_Missense_Mutation_p.P417L|TLE1_uc011lsr.2_Missense_Mutation_p.P402L|TLE1_uc004ama.1_Missense_Mutation_p.P416L|TLE1_uc011lss.1_Missense_Mutation_p.P343L	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	417	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCTACCATGGGGGAGCGCCC	0.687000														7			13		0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16677345	16677345	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16677345A>T	uc010xph.2	-	3	772	c.754T>A	c.(754-756)Ttg>Atg	p.L252M	MED26_uc002nee.2_Non-coding_Transcript|SLC35E1_uc002nem.1_Missense_Mutation_p.L252M	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	252					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAACTCACCAAGTCGCTGCTG	0.527000														33			8		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957435	49957435	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49957435G>A	uc004dow.1	-	4	2053	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	AKAP4_uc004dou.1_Silent_p.F634F|AKAP4_uc004dov.1_Silent_p.F260F|AKAP4_uc010njp.1_Silent_p.F465F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	643					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTCACATTTGAAGGGGTTCT	0.458000														4			75		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072528	53072528	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53072528C>T	uc001sau.1	-	1	663	c.604G>A	c.(604-606)Gag>Aag	p.E202K	KRT1_uc001sav.1_Missense_Mutation_p.E202K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	202	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TTCTGCTGCTCCAGGAACCTC	0.453000														1			18		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59925255	59925255	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:59925255A>G	uc002lil.3	+	13	2186	c.1971A>G	c.(1969-1971)agA>agG	p.R657R	KIAA1468_uc002lik.1_Silent_p.R657R|KIAA1468_uc010xel.2_Silent_p.R657R|KIAA1468_uc002lim.3_Silent_p.R301R	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	657							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTGGTAAGAGAAGCTGTTA	0.328000														18			11		0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248405	14248405	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:14248405C>T	uc002goh.1	+	1	945	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 (HS3ST3B1), mRNA.	205					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CCAGTTACTTCGTCACGCGGG	0.612000														2			65		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456044	5456044	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5456044A>C	uc002mca.4	+	0	619	c.542A>C	c.(541-543)gAg>gCg	p.E181A		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	181	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCCGGCTTCGAGGCGGCCATC	0.657000														66			22		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406597	7406597	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7406597A>C	uc002ghf.4	+	16	3300	c.2914A>C	c.(2914-2916)Act>Cct	p.T972P		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	972					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCTTCCCAACTGGAGACAG	0.597000														70			7		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083113	17083113	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:17083113T>G	uc001ioo.3	-	26	3988	c.3936A>C	c.(3934-3936)gcA>gcC	p.A1312A		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1312	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCTGTTGTTGCCCGGATGG	0.383000														72			62		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588885	33588885	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33588885G>A	uc003jia.1	-	17	2847	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S810L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	895	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCATGTCGCCGAGCATGCTTC	0.582000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			70		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991055	140991055	+	Silent	SNP	G	A	A	rs75673526	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140991055G>A	uc004cog.3	+	35	5353	c.5208G>A	c.(5206-5208)ccG>ccA	p.P1736P	CACNA1B_uc022bqn.1_Silent_p.P1736P|CACNA1B_uc004coi.3_Silent_p.P950P|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1738	EF-hand.				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)	AATACGACCCGGCTGCGTGGT	0.557000														38			13		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170068	22170068	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22170068C>T	uc021urr.1	-	2	325	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF208_uc002nqo.1_Missense_Mutation_p.G59E|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.G59E(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACTCTTTTCCTTCCTCCAG	0.413000														35			28		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505809	6505809	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6505809G>A	uc001amy.3	+	6	1446	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	ESPN_uc001amz.3_5'Flank	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	426					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCACGATTGGGAAGcccacac	0.687000														2			8		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236538	207236538	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207236538A>G	uc001hfg.3	+	4	468	c.359A>G	c.(358-360)gAg>gGg	p.E120G	PFKFB2_uc010psc.2_Missense_Mutation_p.E22G|PFKFB2_uc001hfh.3_Missense_Mutation_p.E120G|PFKFB2_uc009xcc.3_Missense_Mutation_p.E78G|PFKFB2_uc010psd.2_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	120	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTCACTGAGGAGAATGGTCAG	0.532000														65			11		0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2260822	2260822	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2260822T>C	uc010bsh.3	-	0	248	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	C16orf79_uc002cpi.2_Missense_Mutation_p.S5G	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	5						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						GCACAGCAGCTTGCTGGTTCC	0.647000														42			19		0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480192	27480192	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27480192G>A	uc002rjk.3	-	4	793	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	SLC30A3_uc002rjj.3_Silent_p.G48G|SLC30A3_uc010ylh.2_Missense_Mutation_p.P198S	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	203					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGGGGGGCCCAGCCTGG	0.657000														4			8		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11565153	11565153	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:11565153T>G	uc003jfa.1	-	2	335	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	64					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGGGTCAGCCTTTCAAACTGT	0.498000														47			9		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552594	17552594	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17552594A>G	uc001bah.1	+	5	685	c.593A>G	c.(592-594)aAg>aGg	p.K198R		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	198					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GACAGCCACAAGCTTGTCTTG	0.567000														115			4		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201930	248201930	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248201930C>T	uc001idw.3	+	0	457	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GGCCTATGATCGTTATGTGGC	0.428000														64			57		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26520299	26520299	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26520299A>C	uc010oez.2	+	2	379	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	127					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGTTCTCTACCATAGATGA	0.512000														121			19		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38525359	38525359	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:38525359T>G	uc002yvz.3	+	26	2627	c.2522T>G	c.(2521-2523)cTt>cGt	p.L841R	TTC3_uc011aee.1_Missense_Mutation_p.L531R|TTC3_uc002ywa.3_Missense_Mutation_p.L841R|TTC3_uc002ywb.3_Missense_Mutation_p.L841R|TTC3_uc010gnf.3_Missense_Mutation_p.L606R|TTC3_uc002ywc.3_Missense_Mutation_p.L531R|TTC3_uc011aed.1_Missense_Mutation_p.L531R	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	841					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACAGCCATGCTTCTCAAAGAA	0.368000														72			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181453098	181453098	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181453098G>A	uc009wxt.3	+	0	413	c.218G>A	c.(217-219)gGa>gAa	p.G73E	CACNA1E_uc001gow.3_Missense_Mutation_p.G73E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G73E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	73					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G73*(2)|p.F72F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCATCTTCGGAGAAGATAAC	0.502000														153			141		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267765	7267765	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7267765G>A	uc002mgd.1	-	1	352	c.243C>T	c.(241-243)ctC>ctT	p.L81L	INSR_uc002mge.1_Silent_p.L81L|INSR_uc002mgf.3_Silent_p.L81L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	81					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATCATGATGAGTTTGGGGA	0.512000														17			24		0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185823136	185823136	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185823136G>A	uc003fpy.3	-	4	381	c.316C>T	c.(316-318)Cct>Tct	p.P106S	ETV5_uc003fpz.3_Missense_Mutation_p.P64S	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	64					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P64S(2)|p.Q106H(1)|p.E105K(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TCATCATCAGGAACTTGTGCT	0.328000			T	"""TMPRSS2, SCL45A3"""	Prostate									50			99		0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35605820	35605820	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35605820C>T	uc003zxa.3	+	0	540	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TESK1_uc010mks.3_5'UTR|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	68	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCTTCTTCTCTGAGGTCT	0.677000														10			8		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780167	39780167	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39780167C>T	uc003xnm.3	+	5	648	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	178					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTTCTGCAATCAAAGTACGTC	0.393000														28			21		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38136527	38136527	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38136527G>A	uc003chp.1	+	12	2098	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	DLEC1_uc003cho.1_Missense_Mutation_p.D693N|DLEC1_uc010hgv.1_Missense_Mutation_p.D693N|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	693					negative regulation of cell proliferation	cytoplasm		p.D693Y(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCCCACACAGACCACGAGTT	0.527000														20			30		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158059975	158059975	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:158059975G>A	uc003ipj.2	+	6	827	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GLRB_uc021xtp.1_Missense_Mutation_p.D209N|GLRB_uc021xtq.1_Missense_Mutation_p.D209N	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	209					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTACACAACTGATGATTTACG	0.254000														30			11		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:30795606C>T	uc010xbr.1	-	17	2128	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc002kxn.2_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.3_Missense_Mutation_p.M662I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	662								p.M624I(1)|p.M662I(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CATAAAAAATCATTGTCTTAC	0.254000														0			6		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584058	11584058	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:11584058A>C	uc001ash.4	+	10	2560	c.2422A>C	c.(2422-2424)Aag>Cag	p.K808Q	PTCHD2_uc001asi.1_Missense_Mutation_p.K808Q	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	808					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)		CCTGGAGAAGAAGAGGCGAGG	0.657000														75			13		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52512203	52512203	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52512203T>C	uc003ded.4	+	9	1212	c.1078T>C	c.(1078-1080)Tta>Cta	p.L360L	NISCH_uc003dec.1_Silent_p.L360L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	360	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CATCAAGACCTTAAACCTGGC	0.547000														61			20		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646462	57646462	+	Missense_Mutation	SNP	C	T	T	rs143651711		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57646462C>T	uc002qnz.1	-	4	1629	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCTCTCTCCGCTATGAGTT	0.378000														213			31		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174695	207174695	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207174695C>T	uc002vbp.2	+	4	5693	c.5443C>T	c.(5443-5445)Cca>Tca	p.P1815S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1815							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCCTGATGAACCAGTTCTTGA	0.398000														14			11		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34906976	34906976	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34906976A>C	uc002yrz.3	-	3	636	c.325T>G	c.(325-327)Ttt>Gtt	p.F109V	GART_uc002yrx.3_Missense_Mutation_p.F109V|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.F109V|GART_uc002ysa.2_Missense_Mutation_p.F109V	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	109					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TCTTTGGCAAACCTTTTGCTG	0.473000														92			5		0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44047167	44047167	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44047167C>T	uc003tjf.3	+	4	1069	c.933C>T	c.(931-933)tcC>tcT	p.S311S	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	311										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CTTGGGTTTCCCCAGAGGAGT	0.602000														81			56		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750541	79750541	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:79750541T>G	uc002bew.1	+	1	2127	c.2052T>G	c.(2050-2052)tcT>tcG	p.S684S	KIAA1024_uc010unk.1_Silent_p.S684S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	684						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGTGCTGCTCTGATGCTAGCG	0.567000														58			42		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032928	49032928	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:49032928T>C	uc003gyv.3	+	10	1641	c.1459T>C	c.(1459-1461)Ttg>Ctg	p.L487L	CWH43_uc011bzl.2_Silent_p.L460L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	487					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGGGAAAAGTTGGGTTTCTA	0.428000														75			36		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784392	8784392	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:8784392T>G	uc002knr.2	+	5	1424	c.1282T>G	c.(1282-1284)Ttc>Gtc	p.F428V	SOGA2_uc002knq.2_Missense_Mutation_p.F428V|SOGA2_uc010dkw.1_Missense_Mutation_p.F266V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	779																	GACGTCGGGCTTCGGGAGCGG	0.647000														166			32		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80641772	80641772	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:80641772G>A	uc003khl.4	-	6	760	c.705C>T	c.(703-705)ttC>ttT	p.F235F	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	235	Acyl coenzyme A hydrolase 2.|Coenzyme A binding.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATGGTCCCCGGAACTTAAACA	0.473000														17			14		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95189878	95189878	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95189878C>T	uc003ygh.2	-	3	347	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CDH17_uc011lgo.1_Silent_p.R74R|CDH17_uc011lgp.1_Silent_p.R74R	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	74	Cadherin 1.					integral to membrane	calcium ion binding	p.R74L(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAAGTCCCTCCCGTTCTATCA	0.428000														55			40		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924151	188924151	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:188924151G>A	uc003izh.1	+	3	598	c.190G>A	c.(190-192)Gga>Aga	p.G64R	ZFP42_uc003izi.1_Missense_Mutation_p.G64R|ZFP42_uc021xvm.1_Missense_Mutation_p.G64R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	64					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507000														34			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179514946	179514946	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179514946C>T	uc021vsy.1	-	163	32685	c.32460G>A	c.(32458-32460)gaG>gaA	p.E10820E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11747	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L10819Q(1)		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)			CTGGCTTTTCCTCTTCAGGAG	0.383000														2			3		0	0	1	0	0
SAYSD1	55776	broad.mit.edu	37	6	39073313	39073313	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:39073313C>T	uc003ook.1	-	1	447	c.447G>A	c.(445-447)aaG>aaA	p.K149K	SAYSD1_uc003oom.2_Non-coding_Transcript	NM_018322	NP_060792	Q9NPB0	CF064_HUMAN	Homo sapiens SAYSVFN motif domain containing 1 (SAYSD1), mRNA.	149						integral to membrane											AGTAGGCGCTCTTCTCTCCCT	0.537000														114			88		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640950	142640950	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142640950G>A	uc003wcb.3	-	13	1722	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	504					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAGACTGCAGGAAGCTCGATC	0.547000														21			12		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545958	11545958	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11545958C>T	uc010shk.1	-	2	1089	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGCTGCCTCCTTGTGGGGGT	0.607000														240			138		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702494	30702494	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30702494C>T	uc003xil.3	-	0	4040	c.4040G>A	c.(4039-4041)gGa>gAa	p.G1347E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1347										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAAGATTCTCCCTCACTATC	0.408000														52			47		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488382	1488382	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1488382G>A	uc002qwr.3	+	8	1439	c.1353G>A	c.(1351-1353)agG>agA	p.R451R	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.R451R|TPO_uc002qwx.3_Silent_p.R451R|TPO_uc002qwu.3_Silent_p.R451R|TPO_uc010yio.2_Silent_p.R278R|TPO_uc010yip.2_Silent_p.R451R|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	451					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCACCCTGAGGGATTACATCC	0.577000														30			14		0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122964752	122964752	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122964752G>A	uc001ucn.3	-	10	1281	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	ZCCHC8_uc001ucl.3_5'Flank|ZCCHC8_uc001ucm.3_Silent_p.P137P|ZCCHC8_uc009zxp.3_Silent_p.P137P|ZCCHC8_uc009zxq.3_Silent_p.P137P	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	375						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAATTCCTCTGGGAGTAGATA	0.318000														0			2		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14769981	14769981	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:14769981G>A	uc003byy.3	+	11	2178	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	C3orf20_uc003byz.3_Missense_Mutation_p.E454K|C3orf20_uc003bza.3_Missense_Mutation_p.E454K|C3orf20_uc003bzb.1_Missense_Mutation_p.E77K	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	576	Poly-Glu.					cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAAAAAGGAGGAGGAAGAATT	0.473000														44			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169003	113169003	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:113169003G>A	uc010mtz.3	-	37	9214	c.8877C>T	c.(8875-8877)ttC>ttT	p.F2959F	SVEP1_uc010mty.3_Silent_p.F885F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2959	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACCATTAGGGAAACCATGGG	0.458000														141			50		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013243	142013243	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142013243G>A	uc003vxg.3	+	1	127	c.98G>A	c.(97-99)gGa>gAa	p.G33E	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGGTCATGGGAATGACAAAT	0.458000														36			25		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265359	50265359	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50265359T>C	uc002ppm.3	-	1	312	c.301A>G	c.(301-303)Aca>Gca	p.T101A		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	101							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCTTCCACTGTGGAGTCTGTC	0.632000														75			33		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189449	175189449	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:175189449A>C	uc003fit.3	+	8	1643	c.1556A>C	c.(1555-1557)aAa>aCa	p.K519T	NAALADL2_uc003fiu.1_Missense_Mutation_p.K512T|NAALADL2_uc010hwy.1_Missense_Mutation_p.K293T|NAALADL2_uc010hwz.1_Missense_Mutation_p.K113T	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	519					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTCTTCAGAAAAATGTTGTG	0.348000														32			8		0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629584	113629584	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:113629584G>A	uc001tur.1	+	3	1240	c.772G>A	c.(772-774)Ggt>Agt	p.G258S		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	258	Interaction with tubulin.				Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CCCACGACGAGGTGGGGCCAC	0.602000														2			30		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127758	117127758	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117127758A>G	uc003pxj.1	-	2	1132	c.1110T>C	c.(1108-1110)acT>acC	p.T370T	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.T370T	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	370					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTCAAATCAGTGTCCTTGA	0.403000														19			19		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041414	86041414	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:86041414A>C	uc003ycw.3	+	9	1634	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.K383Q|LRRCC1_uc010maa.2_Missense_Mutation_p.K177Q|LRRCC1_uc003ycy.3_Missense_Mutation_p.K456Q	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	476					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTTAGGCTAAAGGAAATTAT	0.303000														118			7		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487711	155487711	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155487711G>C	uc003ioa.4	+	2	416	c.377G>C	c.(376-378)aGt>aCt	p.S126T	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Missense_Mutation_p.S67T	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	126					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCAGAAATAGTGTTGATGAG	0.423000														54			22		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226156	79226156	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79226156T>G	uc002jzz.1	-	12	2159	c.1784A>C	c.(1783-1785)gAc>gCc	p.D595A	SLC38A10_uc002jzy.1_Missense_Mutation_p.D513A|SLC38A10_uc002kab.3_Missense_Mutation_p.D595A	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	595					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCCCCAGGTCCTCCTTTGC	0.647000														50			3		0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5960343	5960343	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5960343A>C	uc001iit.3	+	13	2259	c.2155A>C	c.(2155-2157)Atc>Ctc	p.I719L	FBXO18_uc001iir.3_Missense_Mutation_p.I594L|FBXO18_uc001iis.3_Missense_Mutation_p.I668L|FBXO18_uc009xig.3_Missense_Mutation_p.I594L	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	668					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATGTGGGAAAATCTTTGTAGG	0.527000														125			32		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161629	8161629	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8161629G>A	uc010rbm.1	-	1	290	c.236C>T	c.(235-237)gCc>gTc	p.A79V	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Missense_Mutation_p.A29V|RIC3_uc001mgd.2_Missense_Mutation_p.A79V|RIC3_uc001mgc.2_Missense_Mutation_p.A79V|RIC3_uc009yfm.2_Missense_Mutation_p.A79V|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Missense_Mutation_p.A79V	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	79						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TGATCCTTTGGCCTTTGCAAA	0.507000														51			47		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465241	50465242	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:50465241_50465242GG>AT	uc001vdk.2	+	0	697_698	c.515_516GG>AT	c.(514-516)agg>aAT	p.R172N						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		ATTTCCAAAAGGATACAGTCTC	0.356000														29			22		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551807	21551807	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21551807A>C	uc001bek.2	-	16	2051	c.1976T>G	c.(1975-1977)gTg>gGg	p.V659G	ECE1_uc001bem.2_Missense_Mutation_p.V643G|ECE1_uc001bej.2_Missense_Mutation_p.V647G|ECE1_uc001bei.2_Missense_Mutation_p.V656G|ECE1_uc010odl.1_Missense_Mutation_p.V659G	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	659					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCGCCCGTTCACCGGCTCCCC	0.652000														82			15		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017319	32017319	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32017319T>C	uc003nzl.2	-	27	9681	c.9479A>G	c.(9478-9480)gAg>gGg	p.E3160G	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3207	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCAGGGGCCTCCGGGGCCTC	0.667000														51			10		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128879217	128879217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:128879217G>A	uc004eut.1	+	3	517	c.273G>A	c.(271-273)tgG>tgA	p.W91*	XPNPEP2_uc011mum.2_Nonsense_Mutation_p.W91*	NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	91					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCGTGCGTGGATTACAGGCT	0.493000														1			35		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396123	8396123	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8396123A>G	uc002glm.3	-	32	4525	c.4429T>C	c.(4429-4431)Ttg>Ctg	p.L1477L	MYH10_uc002gll.3_Silent_p.L1446L|MYH10_uc010cnx.3_Silent_p.L1455L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1446					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCTCCAAGTTGGAGGCG	0.537000														50			18		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810000	53810000	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53810000G>A	uc003dgv.4	+	34	4453	c.4290G>A	c.(4288-4290)ggG>ggA	p.G1430G	CACNA1D_uc003dgu.4_Silent_p.G1450G|CACNA1D_uc003dgy.4_Silent_p.G1415G|CACNA1D_uc003dgw.4_Silent_p.G1097G|CACNA1D_uc003dgx.1_Silent_p.G606G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1430	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACAACCCCGGGGAGGAGTATA	0.507000														63			94		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656322	12656322	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:12656322G>A	uc002gno.2	+	9	2016	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	MYOCD_uc002gnn.2_Missense_Mutation_p.E573K|MYOCD_uc002gnp.1_Missense_Mutation_p.E477K|MYOCD_uc002gnq.2_Missense_Mutation_p.E292K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	573					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CATCAAGCAGGAAGAGGCTGT	0.532000														49			13		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1056935	1056935	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1056935C>T	uc002lqw.4	+	33	4847	c.4616C>T	c.(4615-4617)tCc>tTc	p.S1539F	ABCA7_uc002lqy.3_Missense_Mutation_p.S10F|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1539					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGTCTCCATCTGTGTG	0.587000														86			77		0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26093376	26093376	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26093376G>A	uc003nfx.1	+	4	1082	c.922G>A	c.(922-924)Gga>Aga	p.G308R	HFE_uc003nfy.1_Missense_Mutation_p.G285R|HFE_uc010jqe.1_Missense_Mutation_p.G305R|HFE_uc003nfz.1_Missense_Mutation_p.G220R|HFE_uc003ngd.1_Missense_Mutation_p.G206R|HFE_uc003nga.1_Missense_Mutation_p.G294R|HFE_uc003ngb.1_Missense_Mutation_p.G202R|HFE_uc003ngc.1_Missense_Mutation_p.G216R|HFE_uc003nge.1_Missense_Mutation_p.G128R|HFE_uc003ngf.1_Missense_Mutation_p.G36R	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	308					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding	p.G308*(2)|p.G308V(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTAGTCATTGGAGTCATCAG	0.448000									Hemochromatosis					34			35		0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183547	1183547	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1183547G>A	uc002fsi.1	+	0	591	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	84					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGCTCAAGGAGGGCGTCCT	0.662000														1			74		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996162	57996162	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57996162C>T	uc010rkd.2	-	0	229	c.186G>A	c.(184-186)ccG>ccA	p.P62P		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P62Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAAATACATCGGGGTGCGGA	0.527000														49			40		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404369	197404369	+	Missense_Mutation	SNP	C	T	T	rs149390998		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197404369C>T	uc001gtz.3	+	8	3585	c.3376C>T	c.(3376-3378)Ctc>Ttc	p.L1126F	CRB1_uc010poz.2_Missense_Mutation_p.L1102F|CRB1_uc009wza.3_Missense_Mutation_p.L1014F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.L607F|CRB1_uc001gub.1_Missense_Mutation_p.L775F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1126	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.L1126I(2)|p.L1126F(2)|p.L1126L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAGCAATTTCTCAAAATCTC	0.398000														43			30		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973517	166973517	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:166973517G>A	uc001gdy.1	+	5	695	c.624G>A	c.(622-624)ggG>ggA	p.G208G	MAEL_uc021peh.1_Silent_p.G152G|MAEL_uc001gdz.1_Silent_p.G177G|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	208					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CCAACCCAGGGAACTGGCCAC	0.348000														47			24		0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122849383	122849383	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122849383C>T	uc003egc.2	+	10	986	c.830C>T	c.(829-831)tCc>tTc	p.S277F	PDIA5_uc003egd.2_Intron	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	277	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGGGCGGCTCCGTTTATCAC	0.587000														84			20		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110317	73110318	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:73110317_73110318AC>TT	uc003pga.3	+	33	5057_5058	c.4980_4981AC>TT	c.(4978-4983)ccaccg>ccTTcg	p.P1661S	RIMS1_uc011dyb.2_Missense_Mutation_p.P1058S|RIMS1_uc003pgc.3_Missense_Mutation_p.P1076S|RIMS1_uc010kaq.3_Missense_Mutation_p.P981S|RIMS1_uc011dyc.2_Missense_Mutation_p.P786S|RIMS1_uc010kar.3_Missense_Mutation_p.P729S|RIMS1_uc011dyd.2_Missense_Mutation_p.P795S|RIMS1_uc003pge.3_Missense_Mutation_p.P701S|RIMS1_uc003pgf.3_Missense_Mutation_p.P661S|RIMS1_uc003pgi.3_Missense_Mutation_p.P477S|RIMS1_uc003pgg.3_Missense_Mutation_p.P557S|RIMS1_uc003pgh.3_Missense_Mutation_p.P528S|RIMS1_uc003pgd.3_Missense_Mutation_p.P727S|RIMS1_uc011dye.2_Missense_Mutation_p.P467S|RIMS1_uc011dyf.2_Missense_Mutation_p.P285S|RIMS1_uc011dyg.2_Missense_Mutation_p.P188S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1661					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTGTTCCCACCGTCCTCACT	0.530000														2			50		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40581929	40581929	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40581929T>G	uc002yxk.2	-	35	4484	c.4189A>C	c.(4189-4191)Aga>Cga	p.R1397R	BRWD1_uc010goc.1_Silent_p.R40R|BRWD1_uc021wjf.1_Silent_p.R1397R|BRWD1_uc010god.1_Silent_p.R315R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1397	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCTTTGATCTTTTGTTTGGT	0.338000														30			6		0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73760003	73760003	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:73760003G>A	uc002jpk.3	-	1	393	c.330C>T	c.(328-330)gtC>gtT	p.V110V	GALK1_uc010wsj.1_Silent_p.V110V	NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	110					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCACTCCCTTGACATAGTTGG	0.612000														18			6		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267734	31267734	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31267734A>C	uc003jhe.2	+	1	514	c.154A>C	c.(154-156)Aaa>Caa	p.K52Q	CDH6_uc003jhd.2_Missense_Mutation_p.K52Q	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	52					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACCGTTCAAAAAGGAGCTG	0.458000														141			6		0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89323033	89323033	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89323033G>A	uc001dmo.4	-	5	792	c.673C>T	c.(673-675)Cct>Tct	p.P225S		NM_001514	NP_001505	Q00403	TF2B_HUMAN	Homo sapiens general transcription factor IIB (GTF2B), mRNA.	225					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACTTGTTTAGGAAGACAAAGG	0.473000														46			10		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730547	179730547	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179730547G>A	uc002une.2	-	16	2789	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	CCDC141_uc002unf.1_Missense_Mutation_p.R370W	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	316							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACAGGGTCCGTCCATACTCC	0.527000														89			161		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669479	53669479	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53669479G>A	uc010eqm.1	-	3	364	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACTTCCTGGAAGGACAAGC	0.413000														218			84		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91434823	91434823	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91434823C>T	uc002bpv.3	+	11	1689	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	FES_uc010uqj.2_Missense_Mutation_p.P396S|FES_uc010uqk.2_Missense_Mutation_p.P506S|FES_uc002bpx.3_Missense_Mutation_p.P454S|FES_uc002bpy.3_Missense_Mutation_p.P466S|FES_uc010bny.3_Missense_Mutation_p.P396S	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	524	SH2.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCCTAGCATTCCTTTGCTCAT	0.627000														48			33		0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	71992360	71992360	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:71992360C>T	uc010mon.1	+	4	431	c.327C>T	c.(325-327)taC>taT	p.Y109Y	FAM189A2_uc004ahg.2_Silent_p.Y109Y|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	109						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCTCCGCTACCTCCAGATAT	0.577000														36			10		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973730	10973730	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:10973730G>A	uc003jfa.1	-	21	3658	c.3513C>T	c.(3511-3513)ttC>ttT	p.F1171F	CTNND2_uc010itt.2_Silent_p.F1080F|CTNND2_uc011cmy.1_Silent_p.F834F|CTNND2_uc011cmz.1_Silent_p.F738F|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.F763F	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1171					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCCTCGAAGAAGGACTCAT	0.537000														75			37		0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74078123	74078123	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74078123T>C	uc002jqn.2	+	7	1124	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	347					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGCCTCATCCTGCTGAAGGTG	0.697000														13			5		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763773	23763773	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23763773T>C	uc001bha.2	-	13	1316	c.1192A>G	c.(1192-1194)Agc>Ggc	p.S398G	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.S267G|ASAP3_uc010oea.1_Missense_Mutation_p.S389G	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	398					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AAGGCGCTGCTCAGGGCTTCG	0.667000														26			4		0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967176	57967176	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57967176G>A	uc002qos.2	-	0	932	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	227					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAAATCAGGGGAAAAATAT	0.403000														78			29		0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111944655	111944655	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111944655C>G	uc001vrs.2	+	19	2638	c.2388C>G	c.(2386-2388)tgC>tgG	p.C796W	ARHGEF7_uc001vrr.2_Missense_Mutation_p.C775W|ARHGEF7_uc001vrt.2_Missense_Mutation_p.C746W|ARHGEF7_uc001vrv.4_Intron|ARHGEF7_uc001vrw.4_Intron|ARHGEF7_uc001vrx.4_Intron|ARHGEF7_uc010tjo.2_Intron|ARHGEF7_uc010tjp.1_Missense_Mutation_p.C540W|ARHGEF7_uc001vry.1_Missense_Mutation_p.C212W	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	796					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGAGCTGTTGCTCATATATCT	0.428000														58			3		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652071	88652071	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88652071G>A	uc001xwm.3	-	6	1562	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	KCNK10_uc001xwn.3_Silent_p.T480T|KCNK10_uc001xwo.3_Silent_p.T475T	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	475					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AATTCCGGAAGGTCTTGTAGA	0.493000														59			47		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153921837	153921837	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153921837T>G	uc021pab.1	-	11	1587	c.1428A>C	c.(1426-1428)aaA>aaC	p.K476N	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.K12N	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	476					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTGGACAGTTTACTGGTAT	0.547000														67			16		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19140892	19140892	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:19140892T>C	uc002kth.1	-	7	2815	c.1881A>G	c.(1879-1881)acA>acG	p.T627T	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	627					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GATTTGAAGCTGTATACAGCA	0.338000														39			25		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969427	5969427	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:5969427G>A	uc002kmz.4	-	17	1766	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	L3MBTL4_uc002kmy.4_Missense_Mutation_p.R527W|L3MBTL4_uc010dkt.3_Missense_Mutation_p.R536W	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	536					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R536W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGCTGGCCCGGATGTCAGCC	0.632000														52			69		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107586827	107586827	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107586827G>A	uc004bcl.3	-	17	2979	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	859					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGCAAGGAAAATACCAG	0.507000														35			11		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22239738	22239738	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:22239738T>C	uc004dah.3	+	17	1980	c.1777T>C	c.(1777-1779)Tat>Cat	p.Y593H	PHEX_uc011mjr.2_Missense_Mutation_p.Y593H|PHEX_uc011mjs.2_Missense_Mutation_p.Y496H	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	593					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AGGTAGAAAATATGATAAAAA	0.338000														0			24		0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014034	53014034	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:53014034T>G	uc002iud.2	+	8	1054	c.879T>G	c.(877-879)atT>atG	p.I293M	TOM1L1_uc002iuc.3_Missense_Mutation_p.I293M|TOM1L1_uc010dca.1_Missense_Mutation_p.I293M|TOM1L1_uc010wnb.1_Missense_Mutation_p.I286M|TOM1L1_uc010wnc.1_Missense_Mutation_p.I216M|TOM1L1_uc010dbz.2_Missense_Mutation_p.I216M|TOM1L1_uc010wnd.1_Missense_Mutation_p.I181M|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	293					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AACAAAGGATTTTGGAGCAAA	0.269000														17			7		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969189	93969189	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:93969189G>A	uc003poe.3	-	9	2048	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	EPHA7_uc003pof.3_Missense_Mutation_p.P598S|EPHA7_uc011eac.2_Intron	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	603						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGGTGCCTGGAAATTTAACT	0.423000														5			55		0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260918	107260918	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:107260918C>T	uc010rvp.2	-	11	1784	c.1754G>A	c.(1753-1755)aGa>aAa	p.R585K	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	585							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GACCCTTTCTCTTTCCTCATG	0.303000														0			3		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:110919263G>A	uc002tfn.4	-	9	1130	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	NPHP1_uc002tfm.4_Nonsense_Mutation_p.R291*|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R347*|NPHP1_uc002tfo.4_Nonsense_Mutation_p.R228*|NPHP1_uc010ywx.2_Nonsense_Mutation_p.R290*|NPHP1_uc010fjv.1_Nonsense_Mutation_p.R290*	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000														17			14		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249693	238249693	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238249693G>A	uc002vwl.2	-	37	8151	c.7866C>T	c.(7864-7866)ttC>ttT	p.F2622F	COL6A3_uc002vwo.2_Silent_p.F2416F|COL6A3_uc010znj.1_Silent_p.F2015F|COL6A3_uc002vwj.2_Silent_p.F3F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2622	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)		TGTCTAAGATGAAAGCCATGT	0.532000														67			113		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837298	12837298	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12837298T>C	uc001aui.3	+	2	1035	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	336										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)		ATTTCAGTCCTGAGCCCCTCT	0.577000														119			10		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989466	53989466	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:53989466G>A	uc011dxa.2	+	2	481	c.448G>A	c.(448-450)Gat>Aat	p.D150N	MLIP_uc003pcf.2_Missense_Mutation_p.D139N|MLIP_uc003pcg.4_Missense_Mutation_p.D139N|MLIP_uc003pch.4_Missense_Mutation_p.D77N|MLIP_uc011dwz.1_Missense_Mutation_p.D98N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	139						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CGAAGGGGAAGATGAGGCTGC	0.507000														62			34		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641519	36641519	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36641519A>G	uc002xhl.3	-	2	909	c.700T>C	c.(700-702)Tct>Cct	p.S234P	TTI1_uc002xhm.3_Missense_Mutation_p.S234P	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	234							binding	p.V233I(1)		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						TTTAGGGAAGATACGACAATG	0.438000														136			10		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540426	169540426	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169540426C>T	uc003fgb.3	+	0	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	239										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTCGGTGCTCGATTTATCCC	0.577000														85			26		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411708	105411708	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105411708G>A	uc010axc.1	-	6	10200	c.10080C>T	c.(10078-10080)ctC>ctT	p.L3360L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L3260L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3360						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCACAGAAGGGAGCTGAATGC	0.672000														126			138		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														6			13		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93393029	93393029	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93393029A>G	uc001ybc.4	+	2	433	c.173A>G	c.(172-174)gAg>gGg	p.E58G	CHGA_uc001ybd.4_Missense_Mutation_p.E58G	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	58	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GAATGTTTTGAGACACTCCGA	0.567000														33			10		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675732	167675732	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:167675732G>A	uc011cjq.1	-	6	951	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SPOCK3_uc021xuf.1_Silent_p.F289F|SPOCK3_uc011cjr.1_Silent_p.F169F|SPOCK3_uc003iri.1_Silent_p.F289F|SPOCK3_uc011cjs.1_Silent_p.F238F|SPOCK3_uc003irj.1_Silent_p.F286F|SPOCK3_uc011cjt.1_Silent_p.F197F|SPOCK3_uc011cjp.2_Silent_p.F246F|SPOCK3_uc011cju.1_Silent_p.F193F|SPOCK3_uc011cjv.1_Silent_p.F191F|SPOCK3_uc003irk.4_Silent_p.F286F	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	289					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACAAGAATTGAAGAATGCCT	0.398000														61			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727742	13727742	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13727742C>T	uc003jfd.2	-	69	11949	c.11907G>A	c.(11905-11907)tgG>tgA	p.W3969*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W137*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3969					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAAATTTTCCACATTTTCT	0.383000									Kartagener syndrome					43			19		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328215	80328215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:80328215C>T	uc001xun.3	+	16	3585	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Nonsense_Mutation_p.Q608*|NRXN3_uc010asw.3_Nonsense_Mutation_p.Q430*|NRXN3_uc001xur.4_Nonsense_Mutation_p.Q403*	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	608					angiogenesis|cell adhesion	integral to membrane		p.A1031T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAACTCCGCCCAGAGCAACGG	0.527000														17			13		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312327	113312327	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:113312327C>T	uc010mtz.3	-	1	926	c.589G>A	c.(589-591)Gga>Aga	p.G197R	SVEP1_uc010mua.1_Missense_Mutation_p.G197R|SVEP1_uc004beu.2_Missense_Mutation_p.G197R|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	197	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTGGAATATCCATCAGTGATG	0.413000														56			81		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417655	9417655	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:9417655A>G	uc021wam.1	+	25	2599	c.2584A>G	c.(2584-2586)Ata>Gta	p.I862V	PLCB4_uc010gbw.1_Missense_Mutation_p.I862V|PLCB4_uc010gbx.3_Missense_Mutation_p.I874V|PLCB4_uc021wal.1_Missense_Mutation_p.I862V|PLCB4_uc002wnh.3_Missense_Mutation_p.I709V	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	862					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						CCAGAGTGACATAGCCGACGT	0.423000														13			14		0	0	1	0	0
EIF2C4	192670	broad.mit.edu	37	1	36282615	36282615	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36282615T>G	uc001bzj.2	+	1	342	c.152T>G	c.(151-153)aTt>aGt	p.I51S		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	51					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGTGGATATTAAGCCTGAA	0.358000														55			16		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195877	102195877	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:102195877C>T	uc003dvt.1	+	9	1212	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	ZPLD1_uc003dvs.1_Missense_Mutation_p.S355L|ZPLD1_uc011bhg.1_Missense_Mutation_p.S355L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	355						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCAACAATTCGCAACTTGGT	0.308000														1			37		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83180398	83180398	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:83180398C>T	uc001paj.2	-	19	2453	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q	DLG2_uc001pai.2_Missense_Mutation_p.R596Q|DLG2_uc010rsy.1_Missense_Mutation_p.R666Q|DLG2_uc021qof.1_Missense_Mutation_p.R756Q|DLG2_uc010rsz.1_Missense_Mutation_p.R713Q|DLG2_uc010rta.1_Missense_Mutation_p.R699Q|DLG2_uc001pak.2_Missense_Mutation_p.R822Q|DLG2_uc010rtb.1_Missense_Mutation_p.R684Q|DLG2_uc010rsx.1_Missense_Mutation_p.R194Q|DLG2_uc010rsw.1_Missense_Mutation_p.R181Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	717	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R717*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTCGTAGTCTCGCTTTGGCCT	0.388000														75			22		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146204	111146204	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:111146204T>G	uc021oro.1	-	0	1201	c.1201A>C	c.(1201-1203)Act>Cct	p.T401P	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.T401P	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	401						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAGGCAATAGTTAACACACCT	0.502000														59			18		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179494559	179494559	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179494559G>A	uc001gmo.3	+	21	2974	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	863	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACTTCAGGAGGAAAATAAAGA	0.343000														13			9		0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7026224	7026224	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7026224A>T	uc001qru.1	+	4	485	c.263A>T	c.(262-264)gAg>gTg	p.E88V	ENO2_uc009zfi.1_Missense_Mutation_p.E88V|ENO2_uc010sfq.1_Intron|ENO2_uc001qrv.1_Missense_Mutation_p.E88V	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	88					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GTGGAGCAAGAGAAACTGGAC	0.617000														122			7		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551603	100551603	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100551603C>T	uc003uxl.1	+	0	854	c.54C>T	c.(52-54)tcC>tcT	p.S18S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAATCAGTTCCTTTAGCACAA	0.498000														427			8		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88651881	88651881	+	Nonstop_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88651881A>C	uc001xwm.3	-	6	1752	c.1630T>G	c.(1630-1632)Taa>Gaa	p.*544E	KCNK10_uc001xwn.3_Nonstop_Mutation_p.*544E|KCNK10_uc001xwo.3_Nonstop_Mutation_p.*539E	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCACATTTAGTTTCTGTCT	0.453000														70			14		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266980	16266980	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:16266980C>T	uc010gqp.2	-	8	1521	c.1469G>A	c.(1468-1470)aGa>aAa	p.R490K	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.R209K|POTEH_uc002zlj.1_Missense_Mutation_p.R325K	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	490										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCAGGTGTTCTGCTTTTCCT	0.438000														155			12		0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7556717	7556717	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7556717T>G	uc002gif.1	+	1	721	c.138T>G	c.(136-138)gtT>gtG	p.V46V		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	46					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCTACCTCGTTTTTTATGGGT	0.557000														123			44		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67669881	67669881	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:67669881C>T	uc001xja.2	+	3	520	c.230C>T	c.(229-231)tCc>tTc	p.S77F	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	77										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ATCTGTTTTTCCAGCTCCACC	0.473000														25			19		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150704006	150704006	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150704006C>T	uc003wif.3	+	15	2146	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	NOS3_uc011kuy.2_Missense_Mutation_p.S411F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	617	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AACAGCATCTCCTGCTCAGAC	0.607000														88			25		0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39371532	39371532	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39371532G>A	uc002ojt.2	-	11	1094	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Silent_p.F214F|SIRT2_uc002ojs.2_Silent_p.F231F|SIRT2_uc002oju.2_Silent_p.F214F|SIRT2_uc010egh.2_Silent_p.F214F|SIRT2_uc002ojv.2_Silent_p.F249F	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	251	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CCACCTTCAGGAAGTCCTGCG	0.687000														44			31		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30507696	30507696	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30507696C>T	uc010gdx.1	+	6	787	c.534C>T	c.(532-534)ttC>ttT	p.F178F	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	178	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGCATCTTCCTCTTCCGTA	0.627000														47			34		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065774	23065774	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23065774G>A	uc002wsv.3	-	0	1204	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	352	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGCACAGGGGGAGTCCTGGC	0.637000														25			23		0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21705462	21705462	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21705462G>A	uc002kuw.3	+	9	1820	c.1368G>A	c.(1366-1368)ttG>ttA	p.L456L	TTC39C_uc002kuu.3_Silent_p.L395L	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	456							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGTTGTACTTGTGGAAAGCTC	0.453000														104			5		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129770	1129770	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1129770C>T	uc021taf.1	+	1	973	c.902C>T	c.(901-903)cCc>cTc	p.P301L	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.P301L	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	301					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGTGCCAACCCCGTCCTCTAC	0.637000														14			36		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818531	200818531	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200818531A>G	uc001gvl.3	+	11	2937	c.2667A>G	c.(2665-2667)ttA>ttG	p.L889L	CAMSAP2_uc001gvk.3_Silent_p.L878L|CAMSAP2_uc001gvm.3_Silent_p.L862L	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	889						cytoplasm|microtubule	protein binding										GAGAGATTTTAGAATATACCA	0.393000														150			8		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68549423	68549423	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68549423G>A	uc001oog.4	-	10	1338	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	CPT1A_uc001oof.4_Missense_Mutation_p.P390S	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	390					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTGGCCCAGGGAACTCTGCAG	0.468000														22			20		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605737	58605737	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:58605737G>A	uc010tro.2	-	2	652	c.454C>T	c.(454-456)Cct>Tct	p.P152S	C14orf37_uc001xdc.3_Missense_Mutation_p.P114S|C14orf37_uc001xdd.3_Missense_Mutation_p.P114S|C14orf37_uc001xde.3_Missense_Mutation_p.P114S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	114						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GACTCAGTAGGTGTGGAAACA	0.478000														42			36		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233415	65233415	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65233415G>A	uc001xht.3	-	30	6425	c.6374C>T	c.(6373-6375)tCc>tTc	p.S2125F	SPTB_uc001xhr.3_Intron|SPTB_uc001xhs.3_Intron|SPTB_uc001xhu.3_Missense_Mutation_p.S2125F|SPTB_uc010aqi.3_Intron	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2125					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)		TGACTCCCAGGAACTAGACAA	0.637000														55			43		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828774	57828774	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57828774A>G	uc001snv.1	+	0	232	c.105A>G	c.(103-105)gaA>gaG	p.E35E		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	35					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCACCTTGGAACTGGAGAGCC	0.612000														20			8		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121424683	121424683	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:121424683C>T	uc001pxx.3	+	16	2433	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	768					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGAGGAAATCCATCTACCGCT	0.562000														10			94		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18140840	18140840	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18140840A>T	uc002gsp.3	+	13	1718	c.1657A>T	c.(1657-1659)Agc>Tgc	p.S553C		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	553					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCAGGCGGTCAGCGTGGCCAT	0.701000														52			4		0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243638	12243638	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12243638C>T	uc002mtg.2	-	7	1945	c.1363G>A	c.(1363-1365)Gta>Ata	p.V455I	ZNF20_uc002mte.2_Missense_Mutation_p.V420I|ZNF20_uc002mtf.2_Missense_Mutation_p.V455I|ZNF20_uc021upm.1_Missense_Mutation_p.V452I	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TTGCCACATACCTTACACTCA	0.428000														81			6		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146428	70146428	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70146428C>T	uc003hej.3	+	0	212	c.210C>T	c.(208-210)ttC>ttT	p.F70F	UGT2B28_uc010ihr.3_Silent_p.F70F	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	70					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATGACGCATTCACTCTTAAAC	0.368000														70			27		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760769	31760769	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:31760769A>G	uc002wyo.1	+	2	260	c.189A>G	c.(187-189)ggA>ggG	p.G63G		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	63						extracellular region	lipid binding										TCGACCTAGGAGTGCTTCAGA	0.488000														65			8		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54407995	54407995	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54407995G>A	uc002qcq.1	+	16	2046	c.1764_splice	c.e16+1	p.G588_splice	PRKCG_uc010yeg.1_Splice_Site_p.G588_splice|PRKCG_uc010yeh.1_Intron	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	588	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATCTGCAAGGGGGTGAGAGCC	0.562000														36			7		0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145052077	145052077	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145052077T>C	uc003zal.4	-	9	2837	c.2729A>G	c.(2728-2730)aAc>aGc	p.N910S	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.4_Missense_Mutation_p.N607S|PARP10_uc011lku.2_Missense_Mutation_p.N922S|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.N901S	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	910	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCTCACCGTTGCGGCCGCA	0.726000														27			4		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102706900	102706900	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102706900T>G	uc001phj.1	-	9	1456	c.1391A>C	c.(1390-1392)aAa>aCa	p.K464T	LOC100288077_uc001phh.1_Intron	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	464	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GTGTGTCACTTTCTTTGCATT	0.348000														40			5		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044630	141044630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:141044630C>T	uc003llm.3	-	18	2737	c.2659G>A	c.(2659-2661)Ggc>Agc	p.G887S	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.G549S|ARAP3_uc003lln.3_Missense_Mutation_p.G789S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	887					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCCAGCCGGCCCTCTCCTTGC	0.662000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			5		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178054	42178054	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42178054G>A	uc001zos.3	-	6	1627	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	467					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)		CCCAGCCTCTGGACGGCTGCC	0.667000														0			2		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884434	215884434	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:215884434C>T	uc002vew.3	-	11	1594	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ABCA12_uc002vev.3_Missense_Mutation_p.M140I|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	458					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCCAAAGCTCATATCAGAGA	0.463000														24			10		0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429207	23429207	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23429207T>G	uc003xdo.3	+	3	1009	c.856T>G	c.(856-858)Ttc>Gtc	p.F286V	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	286					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGCCAATGCCTTCCGGACGGT	0.612000														47			9		0	0	1	0	0
C22orf26	55267	broad.mit.edu	37	22	46449682	46449682	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:46449682C>T	uc003bgq.1	-	0	343	c.292G>A	c.(292-294)Ggt>Agt	p.G98S	MIRLET7BHG_uc011aqw.2_5'Flank|MIRLET7BHG_uc003bgr.4_5'Flank	NM_018280	NP_060750	Q9NV39	CV026_HUMAN	Homo sapiens chromosome 22 open reading frame 26 (C22orf26), mRNA.	98													Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCTGGCACCGTGCCAGGCT	0.746000														10			4		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823907	50823907	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50823907G>A	uc002pru.1	-	2	2408	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	KCNC3_uc002prt.1_Nonsense_Mutation_p.R341*	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	705					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AAGCAGGCTCGGTCCCGGCTA	0.647000														22			19		0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96070077	96070077	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:96070077A>C	uc003yhj.3	+	8	937	c.914A>C	c.(913-915)gAt>gCt	p.D305A	NDUFAF6_uc011lgs.2_Intron|NDUFAF6_uc003yhi.3_Missense_Mutation_p.D253A|NDUFAF6_uc003yhk.3_Non-coding_Transcript	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	305					biosynthetic process	mitochondrion	transferase activity										CAGCGAGTGGATTTTGATATA	0.289000														13			4		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34099216	34099216	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34099216A>C	uc021wco.1	+	34	7737	c.7090A>C	c.(7090-7092)Act>Cct	p.T2364P	CEP250_uc010zve.2_Missense_Mutation_p.T1732P	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2364					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCTCAGCTGACTTTGGAGCG	0.567000														58			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76535953	76535953	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76535953C>T	uc010dhp.2	-	17	2667	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGAATAGTTCTGCGTTTTCC	0.498000														13			20		0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88872190	88872190	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:88872190T>G	uc002flu.3	+	4	799	c.745T>G	c.(745-747)Ttc>Gtc	p.F249V		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	249					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CTCCTACCGCTTCCGCCAGGA	0.632000														34			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203217	140203217	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140203217C>T	uc003lhl.2	+	0	1857	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.I619I|PCDHAC2_uc003lhj.1_Silent_p.I619I	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	631	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCGCATCCCGTTCCGCG	0.652000														30			30		0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	46998547	46998547	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:46998547A>G	uc002ioi.3	+	4	851	c.716A>G	c.(715-717)aAc>aGc	p.N239S		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Z (UBE2Z), mRNA.	239					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										GACAGCAAAAACTATAATGAA	0.428000														12			5		0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55111489	55111489	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:55111489A>G	uc010zzh.2	+	1	591	c.511A>G	c.(511-513)Agc>Ggc	p.S171G	FAM209B_uc002xxz.3_Missense_Mutation_p.S171G	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	171						integral to membrane											AGAAAGCTCTAGCTGAATGGA	0.408000														93			8		0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147581	33147581	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33147581T>C	uc002xaq.1	+	3	399	c.245T>C	c.(244-246)cTg>cCg	p.L82P	MAP1LC3A_uc002xap.1_Missense_Mutation_p.L86P	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	82					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TTCTTCCTGCTGGTGAACCAG	0.632000														118			44		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122395121	122395121	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122395121A>C	uc009zxk.3	+	10	1836	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D	WDR66_uc021rfh.1_Missense_Mutation_p.E559D	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	559							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCCTACTGAAAAATCAAACT	0.388000														31			18		0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41657044	41657044	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:41657044T>G	uc001uxt.3	+	9	1238	c.1125T>G	c.(1123-1125)gaT>gaG	p.D375E	WBP4_uc010tfd.2_Missense_Mutation_p.D354E	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	375					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		GAGGTGATGATCAATAGTTGC	0.378000														21			4		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475715	44475715	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44475715A>C	uc001cll.3	-	3	652	c.460T>G	c.(460-462)Ttc>Gtc	p.F154V	SLC6A9_uc009vxe.2_Missense_Mutation_p.F10V|SLC6A9_uc010okm.1_Missense_Mutation_p.F81V|SLC6A9_uc001clm.3_Missense_Mutation_p.F100V|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.F85V|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Missense_Mutation_p.F81V|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	154						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCATGAAGAAGAGGGGGATC	0.612000														119			8		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101565882	101565882	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:101565882A>C	uc010yvt.1	+	6	735	c.733A>C	c.(733-735)Aag>Cag	p.K245Q	NPAS2_uc002tap.1_Missense_Mutation_p.K180Q	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	180	PAS 2.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGAACCCAAAGGAATTTCC	0.388000														42			11		0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96637041	96637041	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:96637041C>T	uc022ahu.1	+	1	528	c.528C>T	c.(526-528)agC>agT	p.S176S	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	58					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTTATTCCAGCCTGCAGCTCC	0.468000														17			14		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267747	10267747	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10267747G>A	uc002gmk.1	-	2	191	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	34	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCTTTCTTGGAATCGAATGG	0.458000														13			5		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170031	118170031	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:118170031C>T	uc003yoh.3	+	3	750	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	SLC30A8_uc010mcz.3_Nonsense_Mutation_p.Q125*|SLC30A8_uc003yog.3_Nonsense_Mutation_p.Q125*|SLC30A8_uc011lia.2_Nonsense_Mutation_p.Q125*|SLC30A8_uc022bab.1_Nonsense_Mutation_p.Q125*	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	174					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTACCAGATCCAGGCGACTGT	0.567000														66			81		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156745894	156745894	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156745894A>T	uc021xgh.1	+	11	1485	c.1371A>T	c.(1369-1371)atA>atT	p.I457I	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTTACAGATATCTGACTTAA	0.348000														53			5		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10943010	10943010	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10943010A>C	uc002yip.1	-	11	945	c.577T>G	c.(577-579)Tta>Gta	p.L193V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L175V|TPTE_uc002yir.1_Missense_Mutation_p.L155V|TPTE_uc010gkv.1_Missense_Mutation_p.L55V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	193					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AGTCGAAGTAAATGTGTCCAT	0.323000														34			6		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241475	3241475	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:3241475C>T	uc004crg.4	-	4	2408	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	751						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)				GGTTCTTTTTCCGAATGCTTC	0.448000														1			40		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131170	52131170	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52131170C>T	uc002pxe.3	-	4	1053	c.914G>A	c.(913-915)aGg>aAg	p.R305K		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	305	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTCTGCAGACCTTACTCGACG	0.597000														82			54		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69535692C>T	uc021xow.1	-	0	803	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000														31			45		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477198	110477198	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110477198C>T	uc003yne.3	+	48	8241	c.8137C>T	c.(8137-8139)Ctt>Ttt	p.L2713F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2713					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTCGGCCATCTTGATGAACT	0.468000										HNSCC(38;0.096)				78			49		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640660	99640660	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:99640660T>G	uc001yga.3	-	3	2780	c.2513A>C	c.(2512-2514)aAg>aCg	p.K838T	BCL11B_uc001ygb.3_Missense_Mutation_p.K767T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	838						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)		GCGCGTGAGCTTGCTGCTCTG	0.617000			T	TLX3	T-ALL									36			11		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64655412	64655412	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64655412G>A	uc001xgl.3	+	97	18087	c.17857G>A	c.(17857-17859)Gaa>Aaa	p.E5953K	SYNE2_uc001xgm.3_Missense_Mutation_p.E5953K|SYNE2_uc010apy.3_Missense_Mutation_p.E2338K|SYNE2_uc001xgn.3_Missense_Mutation_p.E915K|SYNE2_uc021rui.1_Missense_Mutation_p.E811K|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_Missense_Mutation_p.E318K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5953					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAATGATTGAAAAGTTACA	0.438000														37			10		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690432	99690432	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:99690432G>A	uc001pga.3	+	3	717	c.213G>A	c.(211-213)ggG>ggA	p.G71G	CNTN5_uc009ywv.2_Silent_p.G71G|CNTN5_uc001pfz.3_Silent_p.G71G|CNTN5_uc021qpb.1_Silent_p.G71G|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	71					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)		GCTGGCTAGGGGCAGCTCAGA	0.433000														5			7		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172007579	172007579	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:172007579A>G	uc001gie.3	+	6	1146	c.970A>G	c.(970-972)Agg>Ggg	p.R324G	DNM3_uc001gid.4_Missense_Mutation_p.R324G|DNM3_uc009wwb.2_Missense_Mutation_p.R324G|DNM3_uc001gif.3_Missense_Mutation_p.R324G	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	324					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGACCCAACAAGGAAGACCAA	0.403000														121			19		0	0	1	0	0
FAM35B	414241	broad.mit.edu	37	10	46927843	46927843	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:46927843A>G	uc010qfo.2	+	3	483	c.155A>G	c.(154-156)aAg>aGg	p.K52R	FAM35B_uc010qfn.2_Non-coding_Transcript					Homo sapiens family with sequence similarity 35, member B (FAM35B), non-coding RNA.											ovary(1)	1						GCAGCTCAGAAGATAGCTCTA	0.378000														18			4		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62130686	62130686	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62130686T>C	uc002jdz.2	-	15	2112	c.1999A>G	c.(1999-2001)Acc>Gcc	p.T667A		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	667	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCAGCAAGGTGATGGGCTCC	0.612000														55			17		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34191043	34191043	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34191043G>A	uc001bxm.1	-	16	2779	c.2602C>T	c.(2602-2604)Ccc>Tcc	p.P868S	CSMD2_uc001bxn.1_Missense_Mutation_p.P828S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	828	Sushi 5.					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)				AGGAACTGGGGAACCTGGGTC	0.557000														32			29		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432545	104432545	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104432545A>T	uc004bbp.2	-	2	2750	c.2149T>A	c.(2149-2151)Tct>Act	p.S717T	GRIN3A_uc004bbq.1_Missense_Mutation_p.S717T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	717					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.S717Y(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGGCTGAAGAAAAGGAGAAG	0.463000														86			28		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761150	27761150	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:27761150T>C	uc002dow.3	+	15	2893	c.2869T>C	c.(2869-2871)Tct>Cct	p.S957P		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	957										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGATGGCTACTCTGGAGAGAC	0.587000														30			10		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923532	158923532	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158923532T>A	uc003qrf.3	+	12	4194	c.2837T>A	c.(2836-2838)cTg>cAg	p.L946Q	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	946					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGAACCGCCTGACCGTCCCT	0.687000														54			5		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901439	102901439	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102901439T>G	uc001ylw.2	+	8	2511	c.2285T>G	c.(2284-2286)cTt>cGt	p.L762R	TECPR2_uc010awl.3_Missense_Mutation_p.L762R|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	762							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCCACGGGCTTCCTTCTTCA	0.612000														97			8		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925425	70925425	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70925425C>T	uc021rvq.1	+	0	1209	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	ADAM21_uc001xmd.3_Silent_p.I403I	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	403					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.I403I(3)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGGAAATCTTTATGCTAA	0.458000														45			40		0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840033	57840033	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57840033G>T	uc002qoi.2	+	3	1560	c.1203G>T	c.(1201-1203)ggG>ggT	p.G401G		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G401V(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGAGTGTGGGAAGGCGTTCA	0.493000														61			26		7.26314e-15	7.3076e-15	1	1	0
PPP2R2B	5521	broad.mit.edu	37	5	145969704	145969704	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:145969704C>T	uc011dbv.2	-	10	1575	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	PPP2R2B_uc010jgm.3_Missense_Mutation_p.E369K|PPP2R2B_uc003loe.3_Missense_Mutation_p.E380K|PPP2R2B_uc003log.4_Missense_Mutation_p.E380K|PPP2R2B_uc003lof.4_Missense_Mutation_p.E380K|PPP2R2B_uc003loi.4_Missense_Mutation_p.E383K|PPP2R2B_uc003loh.4_Missense_Mutation_p.E380K|PPP2R2B_uc003lok.4_Missense_Mutation_p.E369K|PPP2R2B_uc003loj.4_Missense_Mutation_p.E360K|PPP2R2B_uc011dbu.2_Missense_Mutation_p.E386K	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	380					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTGTTTTCCCTCGAAGCC	0.522000														27			21		0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159462159	159462159	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:159462159G>A	uc003lxu.3	+	2	393	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	115					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAGAAGAGAAGAGAGCACTAG	0.363000														13			9		0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154001512	154001512	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:154001512T>G	uc004fmm.3	+	10	1353	c.1143T>G	c.(1141-1143)ggT>ggG	p.G381G	DKC1_uc010nvf.3_Silent_p.G381G|SNORA56_uc004fmo.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	381					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAAGTGGGGTTTAGGTCCAA	0.403000									Congenital Dyskeratosis					35			4		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679414	6679414	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6679414T>A	uc022aqv.1	-	4	935	c.784A>T	c.(784-786)Aat>Tat	p.N262Y	XKR5_uc003wqq.3_Missense_Mutation_p.N99Y	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	262						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ACCATCCTATTTCTAGAAGGG	0.522000														19			12		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13755810	13755810	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:13755810G>A	uc002woj.3	-	3	1250	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	ESF1_uc002wok.1_Missense_Mutation_p.S381F	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CACCTTGACGGAAAATATTAC	0.308000														47			51		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43412925	43412925	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43412925T>G	uc003ouy.1	+	13	3118	c.2903T>G	c.(2902-2904)cTc>cGc	p.L968R	ABCC10_uc003ouz.1_Missense_Mutation_p.L940R|ABCC10_uc010jyo.1_Missense_Mutation_p.L74R	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	968	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGTTTCTACCTCACCGTGTAT	0.572000														84			15		0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354648	33354648	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33354648A>C	uc001bwh.3	+	1	189	c.149A>C	c.(148-150)aAg>aCg	p.K50T		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	50	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GAGTTCAAGAAGATCTACGCC	0.532000														75			12		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137752	32137752	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32137752C>A	uc001rks.3	+	3	4277	c.3863C>A	c.(3862-3864)cCc>cAc	p.P1288H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1288										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAACTAAATCCCTTGCAAAAT	0.343000														15			22		1.96292e-10	1.9724e-10	1	1	0
RNF31	55072	broad.mit.edu	37	14	24619993	24619993	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24619993C>T	uc001wmn.1	+	7	1633	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	RNF31_uc001wml.1_Missense_Mutation_p.P311S|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.P277S|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	462	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCCTGGGCCCCCACGACGCCT	0.602000														49			20		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72951155	72951155	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:72951155T>G	uc003xza.3	-	18	2415	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	747						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCCAGTTGAGTTGAAAGCCAT	0.313000														28			6		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49238616	49238616	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49238616T>G	uc002pki.3	-	3	1213	c.1016A>C	c.(1015-1017)cAg>cCg	p.Q339P		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	339					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCTCCTGCTGCCGCCGCCG	0.657000														24			6		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46021202	46021202	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46021202A>C	uc011bal.1	-	2	395	c.283T>G	c.(283-285)Tca>Gca	p.S95A	FYCO1_uc003cpb.4_Missense_Mutation_p.S95A	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	95	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTACCTCTGAGATAGACTTG	0.502000														61			29		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370082	36370082	+	Missense_Mutation	SNP	A	C	C	rs144655560		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36370082A>C	uc002oce.3	+	15	1955	c.1817A>C	c.(1816-1818)aAg>aCg	p.K606T	APLP1_uc010xsz.2_Missense_Mutation_p.K567T|APLP1_uc002ocf.3_Missense_Mutation_p.K607T|APLP1_uc002ocg.3_Missense_Mutation_p.K510T|APLP1_uc010xta.2_Missense_Mutation_p.K600T	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	606					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCGCAGGAAGAAGCCCTAC	0.657000														72			4		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160671981	160671981	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160671981C>T	uc002ubb.4	-	30	4558	c.4484G>A	c.(4483-4485)gGa>gAa	p.G1495E	LY75-CD302_uc010fos.3_Missense_Mutation_p.G1495E|LY75-CD302_uc002ubc.4_Missense_Mutation_p.G1495E	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1495	C-type lectin 9.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTTCCAAGTTCCTTTTGGATC	0.348000														27			9		0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508220	70508220	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70508220G>A	uc010cft.3	+	15	2120	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	FUK_uc002eyy.3_Missense_Mutation_p.E656K|FUK_uc002eyz.3_Missense_Mutation_p.E147K	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	656						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCTTGCCCAGGAGAGGGACAA	0.617000														3			17		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847259	7847259	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7847259C>T	uc010rbg.2	-	0	261	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	87					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)		AGGTTTCTTTCCTTAGGAAGC	0.507000														49			37		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127915	72127915	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:72127915T>G	uc003xyu.3	-	14	2049	c.1409A>C	c.(1408-1410)gAa>gCa	p.E470A	EYA1_uc003xyt.4_Missense_Mutation_p.E437A|EYA1_uc003xyr.4_Missense_Mutation_p.E435A|EYA1_uc010lzf.3_Missense_Mutation_p.E397A|EYA1_uc003xys.4_Missense_Mutation_p.E470A|EYA1_uc011lfe.2_Missense_Mutation_p.E464A|EYA1_uc003xyv.3_Missense_Mutation_p.E348A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	470					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGCTTCAATTTCGGCCCTCAA	0.527000														44			18		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67299694	67299694	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:67299694C>T	uc001dcx.3	-	11	1927	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	WDR78_uc009waw.3_Missense_Mutation_p.R370Q|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	624										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TAGTCCTTTTCGTATAACCCA	0.338000														23			9		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196388306	196388306	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196388306T>G	uc003fwv.3	+	2	1896	c.1792T>G	c.(1792-1794)Tgc>Ggc	p.C598G		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	598						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TCCATATGACTGCTGTGGGGT	0.607000														189			26		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226035	183226035	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183226035T>C	uc003flr.3	-	2	779	c.721A>G	c.(721-723)Agc>Ggc	p.S241G	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.S239G	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	241	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGGACCCAGCTCATCACGGTC	0.552000														136			26		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300760	158300760	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158300760C>T	uc001frx.3	-	1	262	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CD1B_uc001frw.3_Missense_Mutation_p.D52N|CD1B_uc010pic.1_Missense_Mutation_p.D52N	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	52					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATCTGCAAATCATCCAACCAG	0.493000														167			154		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74309071	74309071	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74309071A>C	uc010wtb.1	-	8	791	c.570T>G	c.(568-570)agT>agG	p.S190R	PRPSAP1_uc010wta.1_Missense_Mutation_p.S293R	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	264					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGCAACAAAACTCTCCACAT	0.517000														44			13		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792451	35792451	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35792451G>A	uc003jjo.3	+	30	4568	c.4457G>A	c.(4456-4458)gGa>gAa	p.G1486E	SPEF2_uc003jjp.1_Missense_Mutation_p.G972E|SPEF2_uc003jjr.3_Missense_Mutation_p.G541E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1486					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATAATAGGAAATAAAGCA	0.338000														61			21		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32977637	32977637	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:32977637A>T	uc001mty.3	+	6	4601	c.4334A>T	c.(4333-4335)aAg>aTg	p.K1445M	QSER1_uc001mtz.1_Missense_Mutation_p.K1206M|QSER1_uc001mua.3_Missense_Mutation_p.K950M	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1445										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGTTCTAAAAAGCCAAGAAAT	0.294000														65			4		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110734570	110734570	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110734570G>A	uc003puc.3	-	1	184	c.180C>T	c.(178-180)acC>acT	p.T60T	METTL24_uc003pub.2_5'Flank|DDO_uc003pud.3_Silent_p.T60T	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	32					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTGAAATGATGGTAACGGAGC	0.537000														59			44		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31406161	31406161	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:31406161T>G	uc001bsi.1	-	21	3571	c.3458A>C	c.(3457-3459)aAg>aCg	p.K1153T	PUM1_uc001bsf.1_Missense_Mutation_p.K821T|PUM1_uc001bsh.1_Missense_Mutation_p.K1155T|PUM1_uc001bsj.1_Missense_Mutation_p.K1129T|PUM1_uc010oga.1_Missense_Mutation_p.K1011T|PUM1_uc001bsk.1_Missense_Mutation_p.K1191T|PUM1_uc010ogb.1_Missense_Mutation_p.K1094T	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1153	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATAGGTGTACTTACGAAGAGT	0.532000														165			23		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347222	101347222	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101347222G>A	uc001pgk.4	-	5	1979	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	TRPC6_uc009ywy.3_Silent_p.P402P|TRPC6_uc009ywz.1_Silent_p.P463P	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	518					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AATATTCCTTGGGGCCCTGAG	0.403000														3			35		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633762	7633762	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7633762G>A	uc001qsz.3	-	14	3466	c.3338C>T	c.(3337-3339)tCc>tTc	p.S1113F	CD163_uc001qta.3_Missense_Mutation_p.S1113F|CD163_uc009zfw.2_Missense_Mutation_p.S1146F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1113					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGACCTGAGGAATTCATTAG	0.443000														56			41		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242271	155242271	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155242271G>A	uc003inw.2	-	13	2915	c.2915C>T	c.(2914-2916)tCa>tTa	p.S972L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	972	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGATCAGATGACTTTATCAA	0.348000														9			14		0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21663895	21663895	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:21663895T>C	uc002djg.2	-	0	93	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	LOC23117_uc021tel.1_Intron|METTL9_uc002dje.3_Intron|METTL9_uc002djf.3_Intron|IGSF6_uc010vbi.2_Missense_Mutation_p.I9V	NM_005849	NP_005840	O95976	IGSF6_HUMAN	Homo sapiens immunoglobulin superfamily, member 6 (IGSF6), mRNA.	9					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGGCGAGCGATGTTGCTTCTG	0.428000														83			45		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136599532C>T	uc003qgx.1	-	3	740	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000														106			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466028	179466028	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179466028C>T	uc021vsy.1	-	235	48217	c.47992G>A	c.(47992-47994)Gaa>Aaa	p.E15998K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9693K|TTN_uc021vta.1_Missense_Mutation_p.E9626K|TTN_uc021vtb.1_Missense_Mutation_p.E9501K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16925	Fibronectin type-III 16.						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)			TGAATGGTTTCCACAGGTGGG	0.393000														52			20		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120629735	120629735	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:120629735G>A	uc003vjq.4	+	1	507	c.60G>A	c.(58-60)gtG>gtA	p.V20V	C7orf58_uc003vjr.1_Silent_p.V20V|C7orf58_uc003vjs.4_Silent_p.V20V	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	20						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CCTTCTTGGTGGGCTTAGTGG	0.607000														42			39		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356694	37356694	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:37356694C>T	uc001caz.2	-	1	254	c.119G>A	c.(118-120)gGa>gAa	p.G40E	GRIK3_uc001cba.1_Missense_Mutation_p.G40E	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	40					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G39V(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCGAAGATTCCTCCTGTGAA	0.498000														162			79		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348885	47348885	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47348885C>T	uc001cqo.1	-	4		c.617G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AGGCACACTTCATGATGCTGT	0.498000														41			18		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158708	38158708	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38158708G>A	uc003chp.1	+	30	4336	c.4315G>A	c.(4315-4317)Gag>Aag	p.E1439K	DLEC1_uc003cho.1_Missense_Mutation_p.E1439K|DLEC1_uc010hgv.1_Missense_Mutation_p.E1442K|DLEC1_uc003chr.1_Missense_Mutation_p.E510K|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'UTR	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1439					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGTGGAAAGGGAGATTCCAGG	0.617000														14			23		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27203053	27203053	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:27203053G>A	uc011lno.2	+	11	2458	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	TEK_uc003zqi.4_Silent_p.E715E|TEK_uc011lnp.2_Silent_p.E568E|TEK_uc003zqj.1_Silent_p.E649E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	715	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTTTTGCAGAGAACAACATAG	0.458000														31			8		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130159	153130160	+	Splice_Site	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153130159_153130160CC>TT	uc004fjb.3	-	23	3155	c.3047_splice	c.e23-1	p.G1016_splice	L1CAM_uc004fjc.3_Splice_Site_p.G1016_splice|L1CAM_uc010nuo.3_Splice_Site_p.G1011_splice	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1016	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					ATCTGAGATCCCTGGGGGGATG	0.614000														4			76		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22881186	22881186	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:22881186G>A	uc002yld.2	+	15	2341	c.2092G>A	c.(2092-2094)Ggt>Agt	p.G698S	NCAM2_uc011acb.2_Missense_Mutation_p.G556S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	698					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.G698C(2)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTGTTTAATGGTCTTGGGCT	0.333000														12			16		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826343	65826343	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65826343C>T	uc001ogy.1	+	9	1049	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	337					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAAAAAGCCCCAGCGGGTGCG	0.572000														35			23		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173744919	173744919	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:173744919A>G	uc001gjc.3	+	9	1755	c.1576A>G	c.(1576-1578)Aga>Gga	p.R526G	KLHL20_uc010pmr.2_Missense_Mutation_p.R337G|KLHL20_uc009wwf.3_Missense_Mutation_p.R508G	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	526					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGCTGAGAGATACAACCC	0.502000														69			16		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535068	88535068	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88535068A>G	uc003hqu.3	+	4	1374	c.1254A>G	c.(1252-1254)ggA>ggG	p.G418G		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	418					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGACACAAGGAGAGGTTGTCA	0.413000														27			12		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343686	103343686	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103343686G>A	uc001dum.3	-	66	5664	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	COL11A1_uc001duk.3_Silent_p.I966I|COL11A1_uc001dul.3_Silent_p.I1770I|COL11A1_uc001dun.3_Silent_p.I1731I|COL11A1_uc009weh.3_Silent_p.I1654I	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1770	Fibrillar collagen NC1.				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)		TTGGTGTATTGATTTCAATGA	0.294000														14			16		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39494811	39494811	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39494811C>T	uc003xni.3	+	7	672	c.617C>T	c.(616-618)gCt>gTt	p.A206V	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Intron	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	206	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAAATGATGGCTGTAACACAA	0.269000														38			5		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51094858	51094858	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:51094858G>T	uc021rsw.1	+	11	1470	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	ATL1_uc001wyd.4_Missense_Mutation_p.G410V|ATL1_uc001wyf.4_Missense_Mutation_p.G410V|ATL1_uc001wye.4_Missense_Mutation_p.G410V|ATL1_uc021rsx.1_Missense_Mutation_p.G410V	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	410					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAGATGGGTGGGGAAGAATTT	0.433000														42			14		0.000219431	0.000219678	1	1	0
PPP4R1	9989	broad.mit.edu	37	18	9550355	9550355	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9550355A>C	uc002koe.1	-	16	2451	c.2333T>G	c.(2332-2334)gTt>gGt	p.V778G	PPP4R1_uc002kof.2_Missense_Mutation_p.V195G|PPP4R1_uc010wzo.1_Missense_Mutation_p.V624G|PPP4R1_uc002kod.1_Missense_Mutation_p.V761G	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	778					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATAGTCATAAACATCTCTGGG	0.328000														159			14		0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175923636	175923636	+	Missense_Mutation	SNP	A	G	G	rs138735701		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:175923636A>G	uc003mej.4	+	7	864	c.811A>G	c.(811-813)Act>Gct	p.T271A		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	271					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGCTAACCAGACTTACCTGGT	0.493000														21			19		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653263	159653263	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:159653263C>T	uc010kjv.3	+	10	1919	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FNDC1_uc010kjw.1_Silent_p.G458G	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	573						extracellular region		p.G573D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTAGACACGGCCACTCGGTGG	0.657000														0			10		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883842	152883842	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152883842G>A	uc021ozl.1	+	0	1569	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	IVL_uc001fau.3_Silent_p.L523L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	523	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			taaaacatctggagcagcagg	0.592000														7			8		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218268	130218268	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:130218268C>T	uc004evz.3	+	4	980	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ARHGAP36_uc004ewa.3_Missense_Mutation_p.S200F|ARHGAP36_uc004ewb.3_Missense_Mutation_p.S181F|ARHGAP36_uc004ewc.3_Missense_Mutation_p.S76F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S212F(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCAAAAATTTCCTTTCCAATT	0.498000														0			19		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54610241	54610241	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:54610241C>T	uc001cwv.1	-	1	1173	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	109	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGCGGGGGCACCTTGCCGCAG	0.587000														30			32		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031414	112031414	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:112031414C>T	uc001ebf.3	-	2	1457	c.690G>A	c.(688-690)acG>acA	p.T230T	ADORA3_uc001ebg.4_Silent_p.T149T	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.T230T(2)|p.T149T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGTACCAGCCCGTGTCCTCTT	0.532000														20			27		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670038	44670038	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44670038G>A	uc010zxl.1	+	7	1070	c.994G>A	c.(994-996)Gga>Aga	p.G332R	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309R	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTTGGGAAGGAAATGAGAC	0.552000														44			48		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37349002	37349002	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:37349002C>T	uc003onq.4	+	6	1506	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	RNF8_uc003onr.4_Intron|RNF8_uc011dtx.2_Missense_Mutation_p.P370L	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	438					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						ATAGAATGCCCCATTTGTCGG	0.423000														60			63		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319018	78319018	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78319018C>T	uc002jyh.2	+	29	7173	c.7030C>T	c.(7030-7032)Cgg>Tgg	p.R2344W	RNF213_uc021uen.1_Missense_Mutation_p.R2295W	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCTCCCTCCGGAAGAGGTG	0.547000														6			95		0	0	1	0	0
TMOD4	29765	broad.mit.edu	37	1	151146966	151146966	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151146966C>T	uc001exc.4	-	2	371	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	TMOD4_uc001exb.3_5'Flank|TMOD4_uc001exd.3_Non-coding_Transcript|TMOD4_uc010pct.2_Missense_Mutation_p.G61R	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	Homo sapiens tropomodulin 4 (muscle) (TMOD4), mRNA.	61					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.T60M(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAGTGGCCCCGTTGGGCTC	0.547000														109			85		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552058	27552058	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27552058A>C	uc002rju.1	-	13	2399	c.2002T>G	c.(2002-2004)Ttg>Gtg	p.L668V	GTF3C2_uc010eyy.1_Missense_Mutation_p.L112V|GTF3C2_uc002rjv.1_Missense_Mutation_p.L657V|GTF3C2_uc002rjw.1_Missense_Mutation_p.L657V	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	657						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTACTCAAGAAGCGCTTG	0.502000														170			82		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689252	49689252	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49689252G>A	uc003cxe.4	+	4	2377	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	755					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E755K(2)		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)		CGGTACTGGCGAGGAGCAGAA	0.627000														34			17		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101259573	101259573	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:101259573C>T	uc003uyr.3	-	5	638	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	154	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCCTCTGGGTCCGTGCCTATA	0.587000														25			20		0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743091	13743091	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:13743091C>T	uc009voa.1	+	1	379	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	94										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAGGGTTCGTCTCAGGTG	0.602000														30			31		0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151413640	151413640	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:151413640T>G	uc021zgs.1	+	26	3032	c.2888T>G	c.(2887-2889)tTt>tGt	p.F963C	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Missense_Mutation_p.F962C|MTHFD1L_uc021zgt.1_Missense_Mutation_p.F897C|MTHFD1L_uc003qoc.3_Missense_Mutation_p.F910C	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	962	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGGCCCTGCTTTTATGACATA	0.498000														41			4		0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461979	4461979	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4461979C>T	uc010vsc.2	-	3	891	c.831G>A	c.(829-831)ggG>ggA	p.G277G	GGT6_uc010vsb.2_Silent_p.G123G|GGT6_uc002fyd.4_Silent_p.G271G|GGT6_uc002fyc.4_Silent_p.G239G	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	271					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GTAGAGCATCCCCAGCAAGGT	0.672000														0			14		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925618	45925618	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45925618C>T	uc001nbr.3	+	6	1897	c.1572C>T	c.(1570-1572)taC>taT	p.Y524Y		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	524	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CTGAAGACTACTGGTACGAGG	0.582000														58			47		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618689	37618689	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37618689G>A	uc002yvg.3	+	18	4490	c.4411G>A	c.(4411-4413)Gag>Aag	p.E1471K	DOPEY2_uc011aeb.2_Missense_Mutation_p.E1420K|DOPEY2_uc002yvh.3_Missense_Mutation_p.E322K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1471					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGTCCCGGGAGTGGCAGAG	0.637000														17			9		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476755	140476755	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140476755G>A	uc003lil.3	+	0	2519	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N	PCDHB2_uc003lim.1_Missense_Mutation_p.S455N	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	794					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGAAGAGCTTTGAATTC	0.448000														45			29		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898814	28898814	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28898814G>A	uc002dro.1	+	7	883	c.699G>A	c.(697-699)ggG>ggA	p.G233G	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.G233G|ATP2A1_uc002drp.1_Silent_p.G108G|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	233					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCGAGATTGGGAAGATCCGAG	0.592000														53			15		0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48660545	48660545	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:48660545A>G	uc001vby.1	-	2	262	c.236T>C	c.(235-237)cTa>cCa	p.L79P	MED4_uc010tgf.1_Missense_Mutation_p.L33P	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	79					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CAATTTCATTAGTTCTTGAAA	0.358000														25			4		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1119460	1119460	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1119460T>G	uc001acy.2	+	11	1400	c.1249T>G	c.(1249-1251)Ttg>Gtg	p.L417V	TTLL10_uc010nyg.1_Missense_Mutation_p.L417V|TTLL10_uc001acz.2_Missense_Mutation_p.L344V	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	417	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCGGCCACTTGACCAACCA	0.602000														240			40		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260208	134260208	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:134260208G>A	uc011kpr.2	+	6	849	c.550G>A	c.(550-552)Gcc>Acc	p.A184T		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	184							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTGGTGAAAGCCCTTGGGGT	0.488000														44			33		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118181	120118181	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:120118181C>T	uc003yoo.3	+	5	682	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	195	C-type lectin.					collagen|cytoplasm	mannose binding	p.I195M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			ACACACTCATCGCTGACTATG	0.517000														35			26		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134062709	134062709	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134062709T>G	uc004cag.3	+	24	3564	c.3453T>G	c.(3451-3453)ccT>ccG	p.P1151P	NUP214_uc004cah.3_Silent_p.P1141P|NUP214_uc004cai.3_Silent_p.P581P|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_5'Flank|NUP214_uc010mzf.3_Silent_p.P449P|NUP214_uc011mcf.1_5'Flank|NUP214_uc010mzh.1_5'Flank	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1151	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAAAACACCTCACCCAGTGT	0.393000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									63			3		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393985	154393985	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154393985C>T	uc010jih.1	+	0	726	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	189	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATACTGTTTCCTGTTTGGAG	0.463000														45			49		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641538	36641538	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36641538T>C	uc002xhl.3	-	2	890	c.681A>G	c.(679-681)caA>caG	p.Q227Q	TTI1_uc002xhm.3_Silent_p.Q227Q	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	227							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						TGCTGTGACCTTGTTTAAAGT	0.418000														107			21		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45017003	45017003	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45017003C>T	uc010ejn.1	-	7	1453	c.1437G>A	c.(1435-1437)agG>agA	p.R479R	CEACAM20_uc010ejo.1_Silent_p.R479R|CEACAM20_uc010ejp.1_Silent_p.R386R|CEACAM20_uc010ejq.1_Silent_p.R386R	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	479						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGTTGTTTTCCTTGAGGGCC	0.527000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			11		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9351933	9351933	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:9351933C>T	uc021wam.1	+	6	591	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PLCB4_uc010gbw.1_Silent_p.P192P|PLCB4_uc010gbx.3_Silent_p.P192P|PLCB4_uc021wal.1_Silent_p.P192P|PLCB4_uc002wnh.3_Silent_p.P39P	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	192					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						TAGGTCTTCCCAGTGGAAAGG	0.313000														56			18		0	0	1	0	0
DSCR6	53820	broad.mit.edu	37	21	38390459	38390459	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:38390459C>T	uc002yvv.3	+	3	735	c.525C>T	c.(523-525)ctC>ctT	p.L175L	DSCR6_uc011aec.2_Missense_Mutation_p.S62F|DSCR6_uc010gnd.3_Missense_Mutation_p.S62F	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	175						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				AGGGTCCGCTCCCTCAAGGTG	0.622000														47			40		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398044	10398044	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10398044G>A	uc002mnr.2	+	0	402	c.356G>A	c.(355-357)gGa>gAa	p.G119E	ICAM4_uc002mns.2_Missense_Mutation_p.G119E|ICAM4_uc002mnt.2_Missense_Mutation_p.G119E|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	119	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACCTGCGCAGGAAAAACACGC	0.677000														8			10		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27151171	27151171	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27151171G>A	uc002rhu.4	+	4	807	c.649G>A	c.(649-651)Gag>Aag	p.E217K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E217K|DPYSL5_uc021vev.1_Missense_Mutation_p.E217K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	217					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGGAATCGAGATCAGCCG	0.488000														20			9		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855807	79855807	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79855807C>T	uc010jam.3	-	3	382	c.32G>A	c.(31-33)gGa>gAa	p.G11E	ANKRD34B_uc003kgw.3_Missense_Mutation_p.G11E|ANKRD34B_uc010jan.3_Missense_Mutation_p.G11E|ANKRD34B_uc021yax.1_Missense_Mutation_p.G11E	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	11						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGGAATTTCCTTCACTTGA	0.453000														6			14		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73530259	73530259	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73530259C>T	uc003uaa.2	+	12	1752	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.P479L	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	513	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GTGGGCAACCCCTACTGGATG	0.627000														55			17		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702140	60702140	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:60702140C>T	uc001nqi.3	+	8	1936	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	TMEM132A_uc001nqj.3_Silent_p.L580L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	580						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTCCCACCTCGTGGCGCCAC	0.716000														25			6		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009024	65009024	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65009024A>C	uc001xhj.3	+	1	1533	c.1457A>C	c.(1456-1458)aAt>aCt	p.N486T	HSPA2_uc001xhk.4_Missense_Mutation_p.N486T	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	486					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ATTGACGCCAATGGCATCCTT	0.547000														51			15		0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376579	200376579	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200376579A>G	uc001gve.3	-	1	2362	c.2255T>C	c.(2254-2256)tTg>tCg	p.L752S	ZNF281_uc001gvf.1_Missense_Mutation_p.L752S|ZNF281_uc001gvg.1_Missense_Mutation_p.L716S|ZNF281_uc021phb.1_Missense_Mutation_p.L752S	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	752					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTAGCATCCAAAGCAGACAA	0.463000														37			12		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035236	184035236	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184035236C>T	uc003fnp.3	+	4	546	c.275C>T	c.(274-276)tCc>tTc	p.S92F	EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Missense_Mutation_p.S99F|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Missense_Mutation_p.S99F|EIF4G1_uc003fnq.3_Missense_Mutation_p.S5F|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Missense_Mutation_p.S52F|EIF4G1_uc010hxz.2_Missense_Mutation_p.S5F|EIF4G1_uc003fnv.4_Missense_Mutation_p.S92F|EIF4G1_uc003fnw.3_Missense_Mutation_p.S99F|EIF4G1_uc003fnx.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	92					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGATCCCTTCCCAGATCTCC	0.632000														186			32		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6565393	6565393	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6565393G>A	uc003zkc.3	-	15	2080	c.1887C>T	c.(1885-1887)atC>atT	p.I629I		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	629					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTAGGCTCGGATAGTGGCCA	0.532000														77			30		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96959084	96959084	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96959084G>A	uc002svu.3	-	14	2138	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	669	Helicase ATP-binding 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACCCTTGGCAGGGTCAACACG	0.483000														53			29		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675692	167675692	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:167675692T>C	uc011cjq.1	-	6	991	c.934A>G	c.(934-936)Aat>Gat	p.N312D	SPOCK3_uc021xuf.1_Missense_Mutation_p.N303D|SPOCK3_uc011cjr.1_Missense_Mutation_p.N183D|SPOCK3_uc003iri.1_Missense_Mutation_p.N303D|SPOCK3_uc011cjs.1_Missense_Mutation_p.N252D|SPOCK3_uc003irj.1_Missense_Mutation_p.N300D|SPOCK3_uc011cjt.1_Missense_Mutation_p.N211D|SPOCK3_uc011cjp.2_Missense_Mutation_p.N260D|SPOCK3_uc011cju.1_Missense_Mutation_p.N207D|SPOCK3_uc011cjv.1_Missense_Mutation_p.N205D|SPOCK3_uc003irk.4_Missense_Mutation_p.N300D	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	303					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACCACTCATTATTAGATATT	0.378000														47			22		0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157164914	157164914	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:157164914A>T	uc003lxd.3	+	4	773	c.647A>T	c.(646-648)aAg>aTg	p.K216M	THG1L_uc011ddu.2_Missense_Mutation_p.K84M|AK000953_uc021ygr.1_5'Flank	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	216					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCAGACAAGAATGAGATT	0.383000														33			13		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260847	32260847	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32260847C>T	uc021yvt.1	-	22	1776	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E452K|C6orf10_uc011dpz.2_Missense_Mutation_p.E533K|C6orf10_uc021yvu.1_Missense_Mutation_p.E533K|C6orf10_uc021yvv.1_Missense_Mutation_p.E519K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	535	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						Atttctgattctctctttcct	0.348000														33			33		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859504	189859504	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:189859504G>A	uc002uqj.1	+	19	1519	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	468	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G468E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGCAAGGATGGATCACCTGG	0.443000														24			30		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073695	33073695	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33073695T>C	uc003zsf.1	-	1	244	c.136A>G	c.(136-138)Agt>Ggt	p.S46G	SMU1_uc011lnu.1_Intron	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	46	CTLH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GCCACAAAACTCTCAATGCTG	0.453000														62			5		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2823039	2823039	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2823039T>C	uc002lwm.2	+	2	252	c.54_splice	c.e2-1	p.P18_splice	ZNF554_uc002lwl.2_Splice_Site	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCACAGCTCTGCCTGCCC	0.602000														72			6		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708487	37708487	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37708487C>T	uc004aag.1	+	3	395	c.351C>T	c.(349-351)gtC>gtT	p.V117V	FRMPD1_uc004aah.1_Silent_p.V117V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	117	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AACGAGCAGTCGATATTCTCA	0.468000														34			16		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466069	110466069	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110466069G>A	uc001dyu.2	+	5	1239	c.826G>A	c.(826-828)Ggc>Agc	p.G276S	CSF1_uc001dyt.2_Missense_Mutation_p.G276S|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.G276S|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	276					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCATCGGTGGCTCACCACA	0.612000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			10		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202568414	202568414	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202568414T>G	uc001gye.3	-	7	1178	c.985A>C	c.(985-987)Aag>Cag	p.K329Q	SYT2_uc010pqb.2_Missense_Mutation_p.K329Q|SYT2_uc009xaf.3_Missense_Mutation_p.K159Q	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	329	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.V328V(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTCTTCTTCTTCACGGTTGTC	0.542000														133			27		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415349	61415349	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:61415349A>C	uc002sbe.3	-	79	10551	c.10529T>G	c.(10528-10530)cTc>cGc	p.L3510R	USP34_uc002sbd.3_Missense_Mutation_p.L312R	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3510					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGACTAAAGAGTCCTCTGGA	0.463000														47			14		0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25657022	25657022	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:25657022A>C	uc002wva.3	-	3	1424	c.902T>G	c.(901-903)tTt>tGt	p.F301C	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.F269C|ZNF337_uc002wvc.3_Missense_Mutation_p.F301C	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTATCGTTAAACCTTCGCCC	0.483000														155			5		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100453	168100453	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168100453G>A	uc002udx.3	+	8	2640	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D676N|XIRP2_uc010fpq.3_Missense_Mutation_p.D629N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	676					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAGCCATTAGACATTCTAAA	0.368000														43			66		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462430	5462430	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5462430G>A	uc010qze.2	-	0	354	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTGTGGATGAAGAACATCT	0.453000														25			22		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21952832	21952832	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21952832A>C	uc001bew.3	-	2	172	c.139T>G	c.(139-141)Tta>Gta	p.L47V	RAP1GAP_uc001bey.3_5'UTR|RAP1GAP_uc001bex.3_5'UTR	NM_001145658	NP_001139130	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 1, mRNA.	0					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GAGGGAACTAAGTTCACTCGT	0.582000														143			9		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42689003	42689003	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:42689003G>A	uc021xxv.1	+	3	306	c.169G>A	c.(169-171)Gag>Aag	p.E57K	GHR_uc003jmt.3_Missense_Mutation_p.E50K|GHR_uc003jmu.3_Missense_Mutation_p.E50K|GHR_uc003jmv.2_Missense_Mutation_p.E50K|GHR_uc021xxw.1_Missense_Mutation_p.E50K|GHR_uc021xxx.1_Missense_Mutation_p.E50K|GHR_uc021xxy.1_Missense_Mutation_p.E50K|GHR_uc021xxz.1_Missense_Mutation_p.E50K|GHR_uc021xya.1_Missense_Mutation_p.E50K|GHR_uc021xyb.1_Missense_Mutation_p.E50K|GHR_uc021xyc.1_Missense_Mutation_p.E50K|GHR_uc011cpq.2_Intron|GHR_uc021xyd.1_Missense_Mutation_p.E28K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	50					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.R57H(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCTTCTAAGGAGCCTAAATT	0.423000														292			42		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30705003C>T	uc003xil.3	-	0	1531	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000														29			19		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220139	13220139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13220139C>T	uc001rbi.3	+	6	1074	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	KIAA1467_uc021qvn.1_Intron	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	351						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGCCCAAAATCGAGACAGCTC	0.458000														54			43		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247782	4247782	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4247782C>T	uc003smx.3	+	36	5405	c.5266C>T	c.(5266-5268)Ctc>Ttc	p.L1756F	SDK1_uc010kso.3_Missense_Mutation_p.L1012F|SDK1_uc003smy.3_Missense_Mutation_p.L243F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1756	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AATGAAGGTCCTCTTCCTCCC	0.557000														55			20		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963155	30963155	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:30963155C>T	uc003tbv.2	+	3	831	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	FAM188B_uc011kac.1_Missense_Mutation_p.R301C|FAM188B_uc010kwf.1_Missense_Mutation_p.R158C|FAM188B_uc010kwh.1_Missense_Mutation_p.R190C|FAM188B_uc022abh.1_Missense_Mutation_p.R126C	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	125										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCACAGACCGCGTGAAGGT	0.587000														19			30		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813375	24813375	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24813375C>T	uc003xee.3	-	0	757	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	219	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGAGATTTCGTCCATCAAG	0.627000														20			16		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897619	159897619	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159897619C>T	uc001fur.2	-	19	3487	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	IGSF9_uc001fuq.2_Missense_Mutation_p.E1081K|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.E243K	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1097						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCAGCAATTCCATGTCCCCA	0.522000														34			40		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927327	55927327	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55927327G>A	uc010rja.2	-	0	467	c.467C>T	c.(466-468)gCt>gTt	p.A156V		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAACATCAGAGCCTGAAATGT	0.393000														73			20		0	0	1	0	0
PIGH	5283	broad.mit.edu	37	14	68060599	68060599	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68060599T>A	uc001xjr.1	-	1	348	c.251A>T	c.(250-252)aAg>aTg	p.K84M	PIGH_uc010tsy.1_Missense_Mutation_p.K84M	NM_004569	NP_004560	Q14442	PIGH_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class H (PIGH), mRNA.	84					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		CTGATCAATCTTCACAAAATG	0.438000														18			5		0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38003518	38003518	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38003518T>G	uc001cbi.3	-	3	1095	c.1022A>C	c.(1021-1023)aAc>aCc	p.N341T	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	341	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AATACGTTTGTTGTTTAAGAA	0.448000														94			8		0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21906135	21906135	+	Splice_Site	SNP	A	C	C	rs146946726	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:21906135A>C	uc021pny.1	+	7	699	c.699_splice	c.e7+1	p.K233_splice	MLLT10_uc001iqs.3_Splice_Site_p.K233_splice|MLLT10_uc001iqv.3_Splice_Site|MLLT10_uc001iqt.3_Splice_Site_p.K233_splice|MLLT10_uc001ira.3_Splice_Site	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	233	Glu/Lys-rich.|Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAAGAGAAAAAAGTAAGTGGA	0.299000			T	"""MLL, PICALM, CDK6"""	AL									19			10		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588412	28588412	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28588412G>A	uc002kwj.4	-	9	1498	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	DSC3_uc002kwi.4_Missense_Mutation_p.P448L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	448	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCACTCTGGGAATATCTCT	0.438000														1			30		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104678309	104678309	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:104678309T>G	uc001kwm.3	+	0	235	c.72T>G	c.(70-72)acT>acG	p.T24T	CNNM2_uc001kwn.3_Silent_p.T24T|CNNM2_uc001kwl.3_Silent_p.T24T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	24					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACTGCCCACTTGGAAGATGG	0.697000														9			5		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62863651	62863651	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:62863651A>C	uc002yii.3	+	18	3174	c.2810A>C	c.(2809-2811)aAg>aCg	p.K937T	MYT1_uc002yij.3_Missense_Mutation_p.K596T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	937					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTCCTGGAAGTCCCTGAAG	0.632000														71			14		0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691093	39691093	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39691093C>T	uc002okq.1	+	4	675	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	219	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCCCGAACTTCTGGGAGAGGA	0.672000														149			61		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3410611	3410611	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3410611T>C	uc001akl.3	-	32	4434	c.4207A>G	c.(4207-4209)Agt>Ggt	p.S1403G	MEGF6_uc001akk.3_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1403	EGF-like 26.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATCGGCCACTGATGGGGTCG	0.682000														42			8		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106497	148106497	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148106497C>T	uc003weu.2	+	22	4246	c.3730C>T	c.(3730-3732)Cca>Tca	p.P1244S	CNTNAP2_uc003wev.2_Missense_Mutation_p.P21S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1244					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGGATTTTCCATATAATCC	0.408000										HNSCC(39;0.1)				33			9		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498837	156498837	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156498837T>G	uc001fpf.3	-	34	4517	c.4442A>C	c.(4441-4443)aAg>aCg	p.K1481T		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1481					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTCTGCCTTCCGCCTGTG	0.597000														121			6		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74023229	74023229	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74023229G>A	uc010wss.1	-	0	279	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EVPL_uc002jqi.2_Silent_p.G17G|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	17	4 X 4 AA tandem repeats of K-G-S-P.|Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.K16N(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						tggcgggggagcccttggggg	0.677000														2			12		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159657285	159657285	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:159657285C>T	uc010kjv.3	+	11	4206	c.4006C>T	c.(4006-4008)Cct>Tct	p.P1336S	FNDC1_uc010kjw.1_Missense_Mutation_p.P1221S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1336						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAAGTCCTTCCTGGTAGTAA	0.413000														1			25		0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717443	2717444	+	Missense_Mutation	DNP	TT	CA	CA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2717443_2717444TT>CA	uc002lwf.3	-	1	519_520	c.361_362AA>TG	c.(361-363)aac>TGc	p.N121C	DIRAS1_uc021umt.1_Missense_Mutation_p.N121C	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	121					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGCACTTGTTGCCCACGAGC	0.634000														40			13		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118494982	118494982	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:118494982A>G	uc010oxe.1	+	17	2033	c.1967A>G	c.(1966-1968)aAg>aGg	p.K656R	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	656						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAAGATCATAAGATTAAACAG	0.378000														97			9		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963240	+	Splice_Site	DNP	CT	TC	TC			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153963239_153963240CT>TC	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGGT	0.540000														37			42		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124560393	124560393	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124560393T>G	uc003eho.3	-	4	914	c.617A>C	c.(616-618)aAg>aCg	p.K206T		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGGAAACAACTTGTAACTAGA	0.473000														56			12		0	0	1	0	0
TATDN1	83940	broad.mit.edu	37	8	125531096	125531096	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:125531096T>C	uc003yrd.2	-	3	207	c.165A>G	c.(163-165)caA>caG	p.Q55Q	TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Silent_p.Q8Q	NM_032026	NP_001139632	Q6P1N9	TATD1_HUMAN	Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA.	55						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTACTGTCTTGTAGATTTC	0.308000														63			5		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:192701073C>T	uc002utb.3	-	1	1209	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458000														49			93		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409389	4409389	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4409389A>C	uc002mal.3	+	2	693	c.593A>C	c.(592-594)gAc>gCc	p.D198A		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	198	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGAGGCGACTCCCAGGAA	0.587000								Chromatin Structure						56			9		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160734850	160734851	+	Nonsense_Mutation	DNP	TC	AT	AT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160734850_160734851TC>AT	uc002ubb.4	-	10	1832_1833	c.1758_1759GA>AT	c.(1756-1761)tggaat>tgATat	p.586_587WN>*Y	LY75-CD302_uc010fos.3_Nonsense_Mutation_p.586_587WN>*Y|LY75-CD302_uc002ubc.4_Nonsense_Mutation_p.586_587WN>*Y|LY75-CD302_uc010fot.2_Nonsense_Mutation_p.586_587WN>*Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	586	C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCAAGAAAATTCCAGTTGGAAA	0.436000														37			42		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30409439	30409439	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30409439A>G	uc003agv.4	+	13	1740	c.1412A>G	c.(1411-1413)gAa>gGa	p.E471G	MTMR3_uc003agu.4_Missense_Mutation_p.E471G|MTMR3_uc003agw.4_Missense_Mutation_p.E471G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	471	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E471K(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATCTGAATGAACGTTGCCCA	0.478000														129			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179490110	179490110	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179490110G>A	uc021vsy.1	-	189	36959	c.36734C>T	c.(36733-36735)tCa>tTa	p.S12245L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S5940L|TTN_uc021vta.1_Missense_Mutation_p.S5873L|TTN_uc021vtb.1_Missense_Mutation_p.S5748L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13172	Ig-like 82.						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)			TTTTCCTTCTGAACGTGGGAC	0.348000														47			66		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50367354	50367354	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50367354G>A	uc003tow.4	+	3	315	c.160_splice	c.e3+1	p.A54_splice	IKZF1_uc022acq.1_Splice_Site_p.A54_splice|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Splice_Site_p.G54_splice|IKZF1_uc022acu.1_Splice_Site_p.G54_splice|IKZF1_uc003tox.4_Splice_Site_p.A54_splice|IKZF1_uc022acv.1_Splice_Site_p.G54_splice|IKZF1_uc022acw.1_Splice_Site_p.G54_splice|IKZF1_uc022acx.1_Splice_Site_p.A54_splice|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Splice_Site_p.G54_splice|IKZF1_uc003toy.4_Splice_Site_p.A54_splice|IKZF1_uc003toz.4_Splice_Site_p.A24_splice|IKZF1_uc010kyx.3_Splice_Site_p.G24_splice|IKZF1_uc003tov.1_Splice_Site_p.V54_splice	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	54					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGTCGTGGGTAAGTGGGTC	0.522000			"""D,T"""	BCL6	"""ALL, DLBCL"""									11			8		0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38150238	38150238	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:38150238T>G	uc004ded.1	-	12	1714	c.1546A>C	c.(1546-1548)Aaa>Caa	p.K516Q	RPGR_uc004deb.3_Missense_Mutation_p.K516Q|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	516					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGTGATAATTTTAATGACTTT	0.244000														7			7		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61646236	61646236	+	Silent	SNP	G	A	A	rs115282539	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61646236G>A	uc001nsm.3	-	3	759	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	202					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCATCACGAACTTCTGGG	0.642000														54			15		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841908	230841908	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:230841908C>T	uc001hty.4	-	2	1403	c.895G>A	c.(895-897)Gag>Aag	p.E299K	AGT_uc009xff.3_Missense_Mutation_p.E271K	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	299					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCCAGAACTCCTGGGGCTCG	0.587000														22			22		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367040	32367040	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32367040G>A	uc001utt.3	+	15	1672	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	RXFP2_uc010aba.3_Missense_Mutation_p.G510E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	534						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTCGACCTGGAAAACGGCAG	0.433000														12			13		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9319589	9319589	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:9319589G>A	uc021wam.1	+	3	289	c.274G>A	c.(274-276)Gat>Aat	p.D92N	PLCB4_uc010gbw.1_Missense_Mutation_p.D92N|PLCB4_uc010gbx.3_Missense_Mutation_p.D92N|PLCB4_uc021wal.1_Missense_Mutation_p.D92N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	92					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						ATCAGAAAATGATCTGGAAGG	0.403000														65			41		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26903816	26903816	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:26903816C>T	uc003jgs.1	-	5	1098	c.929G>A	c.(928-930)gGa>gAa	p.G310E	CDH9_uc010iug.3_Missense_Mutation_p.G310E	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	310	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGCACCATCTCCTTCAGCAAT	0.428000														57			171		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656013	40656013	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:40656013C>T	uc002rrx.3	-	0	1432	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	SLC8A1_uc002rry.3_Missense_Mutation_p.D470N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D470N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D470N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D470N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D470N|SLC8A1_uc010fan.1_Missense_Mutation_p.D470N|SLC8A1_uc002rsc.1_Missense_Mutation_p.D470N	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	470	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTGGGTATCACCAGGCTTA	0.408000														14			24		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773817	35773817	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35773817G>A	uc003olg.1	+	0	747	c.370G>A	c.(370-372)Gcc>Acc	p.A124T		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	124						integral to membrane		p.T123T(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTGCAACACGGCCACAGTCTA	0.572000														43			34		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169423113	169423113	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169423113A>G	uc003maf.3	+	29	3097	c.3017A>G	c.(3016-3018)aAg>aGg	p.K1006R	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.K498R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1006	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.N1005N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTATCAACAAGTTTGCAGAA	0.478000														25			7		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151700004	151700004	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151700004C>T	uc003wkp.3	+	5	1134	c.864C>T	c.(862-864)ttC>ttT	p.F288F	GALNTL5_uc010lqf.3_Silent_p.F177F|GALNTL5_uc003wkq.3_Silent_p.F39F|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	288						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAATGTTTTCTCTTATGAGA	0.393000														37			42		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130856036	130856036	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:130856036C>T	uc001uik.3	+	20	2750	c.2479C>T	c.(2479-2481)Cgt>Tgt	p.R827C		NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	827	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGGTGTCATTCGTGTTCCTGC	0.428000														7			57		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1073259	1073259	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1073259C>T	uc002lqz.1	+	2	764	c.533C>T	c.(532-534)aCc>aTc	p.T178I	HMHA1_uc010xgd.1_Missense_Mutation_p.T194I|HMHA1_uc010xge.1_Missense_Mutation_p.T18I|HMHA1_uc002lra.1_Missense_Mutation_p.T18I|HMHA1_uc002lrb.1_Missense_Mutation_p.T61I	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACGCTCACCGCAGCCGGC	0.642000														53			47		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114766406	114766406	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:114766406A>G	uc001vui.3	-	18	1876	c.1745T>C	c.(1744-1746)tTc>tCc	p.F582S	RASA3_uc010tkk.2_Missense_Mutation_p.F550S|RASA3_uc001vuj.3_Missense_Mutation_p.F199S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	582	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTTGATCATGAACCTGTGTGA	0.532000														54			15		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289809	5289810	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5289809_5289810CC>TT	uc001mal.1	-	2	599_600	c.333_334GG>AA	c.(331-336)atggtg>atAAtg	p.111_112MV>IM	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.111_112MV>IM	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	111					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATAATCACCATCACGTTAC	0.465000														94			51		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80750684	80750684	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:80750684C>T	uc001szd.3	+	47	5988	c.5982C>T	c.(5980-5982)tcC>tcT	p.S1994S	OTOGL_uc021rba.1_Silent_p.S13S|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGTTTTTCCCCTTTTTGTG	0.368000														0			22		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136432945	136432945	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136432945A>G	uc002tuo.3	+	18	2461	c.2091A>G	c.(2089-2091)atA>atG	p.I697M	R3HDM1_uc010fni.3_Missense_Mutation_p.I696M|R3HDM1_uc002tup.3_Missense_Mutation_p.I642M|R3HDM1_uc010zbh.2_Missense_Mutation_p.I445M	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	697							nucleic acid binding	p.G696*(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCAAGGAATAGTTGGAGTTC	0.428000														56			11		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148346687	148346687	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:148346687A>C	uc001eqf.3	-	0	105	c.70T>G	c.(70-72)Ttg>Gtg	p.L24V	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqg.3_5'UTR|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc001erd.4_Missense_Mutation_p.L24V|NBPF14_uc010paj.2_5'UTR|NBPF14_uc010pav.2_Missense_Mutation_p.L24V|NBPF14_uc010paw.2_5'UTR	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	0						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGGGGGCGCAATTTCTCGTTG	0.512000														168			27		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670319	3670319	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3670319A>G	uc002wja.3	-	18	4925	c.4925T>C	c.(4924-4926)cTg>cCg	p.L1642P	SIGLEC1_uc002wiz.4_Missense_Mutation_p.L1642P|SIGLEC1_uc002wjb.1_3'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1642					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						GACCCAGAGCAGCTGCTGGAA	0.667000														8			4		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207103720	207103720	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207103720G>A	uc001hez.3	-	10	2422	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PIGR_uc009xbz.3_Silent_p.F746F	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	746						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTGGAGCAGGAAGTCTTTGT	0.637000														41			36		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891721	148891721	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:148891721G>A	uc009wkv.1	+	8		c.1023G>A								Homo sapiens cDNA, FLJ17483.																		TCAAGGGATGGTGATATGGAT	0.348000														39			7		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19682404	19682404	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:19682404A>G	uc022asn.1	+	7	1058	c.927A>G	c.(925-927)caA>caG	p.Q309Q	INTS10_uc003wzj.3_Silent_p.Q309Q	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	309					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATAAAAACCAAGTGGTGTATT	0.368000														42			4		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40920278	40920278	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40920278A>G	uc010bbs.1	+	11	5626	c.5465A>G	c.(5464-5466)cAc>cGc	p.H1822R	CASC5_uc010bbt.1_Missense_Mutation_p.H1796R	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1822					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATTTTTGATCACCATACTGAA	0.338000														37			5		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35705828	35705828	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35705828C>T	uc003jjo.3	+	17	2694	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	SPEF2_uc003jjq.4_Silent_p.I856I|SPEF2_uc003jjp.1_Silent_p.I347I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	861					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAAAAATCAATGCTGAAA	0.274000														7			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3443759G>A	uc022aqr.1	-	8	1511	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	375	Sushi 2.					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)		GTCCTCACATGAAAACTGTAC	0.408000														10			5		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51770684	51770684	+	Silent	SNP	G	A	A	rs139583927		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51770684G>A	uc002pwb.1	+	4	849	c.468G>A	c.(466-468)aaG>aaA	p.K156K	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.K62K	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	156						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						GAGCAAAAAAGAGCTCTAAAG	0.473000														86			78		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885298	60885298	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60885298A>T	uc002ycq.3	-	76	10737	c.10670T>A	c.(10669-10671)cTg>cAg	p.L3557Q	LAMA5_uc021wfw.1_Missense_Mutation_p.L3557Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3557	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGAAGATCAGTCCGGTGAC	0.637000														55			23		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548097	47548097	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47548097C>T	uc001cqu.1	+	3	459	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	152						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAAAATATTCATCACCATGA	0.468000														32			50		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116750725	116750725	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:116750725G>A	uc004bid.3	+	2	301	c.202G>A	c.(202-204)Gat>Aat	p.D68N	ZNF618_uc004bib.1_Missense_Mutation_p.D68N|ZNF618_uc004bic.3_Missense_Mutation_p.D68N|ZNF618_uc011lxi.2_Missense_Mutation_p.D68N|ZNF618_uc011lxj.2_Missense_Mutation_p.D68N	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGAGCTGCCCGATGACTACAT	0.632000														30			9		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486596	76486596	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:76486596C>T	uc002fex.1	+	6	1411	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	CNTNAP4_uc002feu.1_Silent_p.L420L|CNTNAP4_uc002fev.1_Silent_p.L285L|CNTNAP4_uc010chb.1_Silent_p.L348L|CNTNAP4_uc002few.2_Silent_p.L396L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	421	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L396L(1)|p.L348L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTATCCTCCTCTTTCTGAGTG	0.453000														2			45		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31008832	31008832	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31008832G>T	uc010cad.2	-	4	457	c.345C>A	c.(343-345)cgC>cgA	p.R115R	STX1B_uc010vfd.2_Silent_p.R115R	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	115					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCTGGGTCTTGCGGATGCGCA	0.711000														5			3		1	1	1	1	0
ANKRD22	118932	broad.mit.edu	37	10	90585810	90585810	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:90585810A>G	uc001kfj.4	-	3	752	c.384T>C	c.(382-384)gtT>gtC	p.V128V		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	128										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CTGTAGCATTAACTTCGACGC	0.328000														35			3		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333131	33333131	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33333131C>T	uc002ntv.4	-	10	1284	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.T389T|SLC7A9_uc021usa.1_Silent_p.T389T|SLC7A9_uc002ntw.4_Silent_p.T180T	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	389					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.T389T(2)|p.T389M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTCCTAGAATCGTCAGGCCAT	0.428000														39			36		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197549	11197549	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:11197549C>T	uc004cup.1	-	6	2226	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.G451G|ARHGAP6_uc004cum.1_Silent_p.G248G|ARHGAP6_uc004cun.1_Silent_p.G271G|ARHGAP6_uc010neb.1_Silent_p.G273G|ARHGAP6_uc011mif.1_Silent_p.G248G	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	451	Rho-GAP.				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding	p.G451G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGACATCAATCCCACGGTCAA	0.527000														1			51		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107456	45107456	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45107456A>C	uc002zdk.3	+	12	1315	c.1201A>C	c.(1201-1203)Agg>Cgg	p.R401R	RRP1B_uc002zdl.3_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	401					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAAGAGAAGAAGGAAGAAGAA	0.542000														76			21		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752528	247752528	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247752528C>T	uc010pyy.2	+	0	867	c.867C>T	c.(865-867)aaC>aaT	p.N289N		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L288V(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCATGCTTAACCCTCTTATTT	0.408000														100			64		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043419	180043419	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180043419A>C	uc003mlz.4	-	22	3246	c.3167T>G	c.(3166-3168)tTt>tGt	p.F1056C	FLT4_uc003mma.4_Missense_Mutation_p.F1056C	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1056	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGCAAGGCCAAAGTCACAGAT	0.617000														40			10		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176984011	176984011	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176984011C>T	uc001glc.3	-	8	1651	c.1439_splice	c.e8-1	p.G480_splice	ASTN1_uc001glb.1_Splice_Site_p.G480_splice|ASTN1_uc001gld.1_Splice_Site_p.G480_splice|ASTN1_uc009wwx.1_Splice_Site_p.G480_splice|ASTN1_uc001gle.4_Splice_Site	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	480	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGCATTCCCCTTAGAAGCA	0.423000														133			130		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726173	12726173	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12726173T>C	uc001auf.3	+	3	651	c.651T>C	c.(649-651)gcT>gcC	p.A217A		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	217						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)		GGATCCGGGCTCAGGTTCTGA	0.552000														125			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090343	9090343	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9090343C>T	uc002mkp.3	-	0	1676	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	491	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCTGCCTCCCAGAGGTGCT	0.527000														88			33		0	0	1	0	0
BACE1	23621	broad.mit.edu	37	11	117161328	117161328	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117161328A>C	uc001pqz.3	-	7	1601	c.1140T>G	c.(1138-1140)tgT>tgG	p.C380W	BACE1_uc001pqw.3_Missense_Mutation_p.C355W|BACE1_uc001pqx.3_Missense_Mutation_p.C311W|BACE1_uc001pqy.3_Missense_Mutation_p.C336W|BACE1_uc010rxg.2_Missense_Mutation_p.C255W|BACE1_uc010rxh.2_Missense_Mutation_p.C280W|BACE1_uc009yzo.1_Missense_Mutation_p.V48G|AB488780_uc021qqx.1_5'Flank|AB488780_uc010rxi.2_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	380					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CAAACTTGTAACAGTCGTCTT	0.522000														20			3		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31279340	31279340	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:31279340C>T	uc010sjy.1	-	25	3413	c.3413G>A	c.(3412-3414)gGa>gAa	p.G1138E						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCTCTTTTCCAGCTAAGGC	0.423000														35			32		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23409675	23409675	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23409675A>T	uc001bgi.2	+	18	2526	c.2377A>T	c.(2377-2379)Att>Ttt	p.I793F	KDM1A_uc001bgj.2_Missense_Mutation_p.I817F	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	793	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAATAGCCGATTCCACGACT	0.443000														107			18		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413309	50413309	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50413309G>A	uc003daq.3	-	19	1814	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CACNA2D2_uc003dap.3_Silent_p.I592I	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	592					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTCCGACGGATCTGGAAGG	0.592000														42			19		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684681	100684681	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100684681T>G	uc003uxp.1	+	2	10037	c.9984T>G	c.(9982-9984)acT>acG	p.T3328T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3328	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGACGGTACTAGCATGCCAA	0.488000														330			110		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156575	120156575	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:120156575T>G	uc001txj.2	-	30	3988	c.3932A>C	c.(3931-3933)aAa>aCa	p.K1311T	CIT_uc001txh.2_Missense_Mutation_p.K788T|CIT_uc001txi.2_Missense_Mutation_p.K1269T	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1269					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAGCGAGCTTTCTCCTTCTC	0.557000														33			15		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913319	136913319	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:136913319G>A	uc004cew.3	-	5	1160	c.972C>T	c.(970-972)tcC>tcT	p.S324S	BRD3_uc004cex.2_Silent_p.S324S	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	324						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGTGCTTCTTGGATAGCATCT	0.627000			T	C15orf55	lethal midline carcinoma of young people									10			15		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603295	95603295	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:95603295A>G	uc001tdp.4	-	1	1989	c.1765T>C	c.(1765-1767)Tcg>Ccg	p.S589P	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	589					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTGTTTGACGATACGGTGACA	0.448000														55			13		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104172186	104172186	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:104172186C>T	uc001kvg.1	-	5	2227	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	PSD_uc001kvh.1_Missense_Mutation_p.R188Q|PSD_uc009xxd.1_Missense_Mutation_p.R567Q	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	567	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCATCTAGTCGGTACAGCCT	0.622000														2			23		0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89755010	89755011	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89755010_89755011CC>TT	uc002bnl.3	-	6	1027_1028	c.647_648GG>AA	c.(646-648)cgg>cAA	p.R216Q		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	216	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GATCTGAAGTCCGGAGACTAGC	0.545000														40			20		0	0	1	0	0
D21847	0	broad.mit.edu	37	14	22090581	22090581	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22090581C>T	uc001wbi.2	+	1	233	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		ACCCACATTTCTTTCTTACAA	0.478000														103			32		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320186	38320186	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:38320186G>A	uc010abx.3	-	2	1020	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S262F|TRPC4_uc001uws.3_Missense_Mutation_p.S262F|TRPC4_uc010tey.2_Missense_Mutation_p.S262F|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.S262F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	262	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGTTCTCTGGAACTTCTCGT	0.403000														55			58		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443642	5443642	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5443642C>T	uc010qzd.2	+	0	302	c.212C>T	c.(211-213)aCg>aTg	p.T71M	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L70M(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCCTGACGGACCTGGGT	0.532000														97			66		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558180	159558180	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159558180G>A	uc001ftv.3	+	1	450	c.354G>A	c.(352-354)gaG>gaA	p.E118E		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	118	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGAGCTGGGAGTCCTCATCAG	0.448000														33			31		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660536	153660536	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153660536C>T	uc001fcs.4	+	14	2677	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	NPR1_uc010pdz.2_Silent_p.I498I|NPR1_uc010pea.2_Silent_p.I230I	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	752	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAGAGATCATCGAGCGGGTGA	0.662000														61			44		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821244	151821244	+	Missense_Mutation	SNP	C	T	T	rs138966264		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:151821244C>T	uc004ffp.1	+	8	1419	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	467						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGGTGTTCGCTTTAATGG	0.562000														3			68		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119154282	119154282	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119154282G>A	uc003ibx.3	+	8	2338	c.1935G>A	c.(1933-1935)ggG>ggA	p.G645G	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	645	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.R644M(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACCACAGGGGGATTGATTGGT	0.353000														32			28		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58320062	58320062	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:58320062C>T	uc002enf.3	-	4	696	c.301G>A	c.(301-303)Gat>Aat	p.D101N	PRSS54_uc002eng.3_Missense_Mutation_p.D101N|PRSS54_uc010vie.2_Missense_Mutation_p.D2N	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	101	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGCTAGGATCCATGTTACTT	0.453000														10			47		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680657	137680657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137680657C>T	uc003lcv.3	+	3	750	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	FAM53C_uc003lcw.3_Nonsense_Mutation_p.Q94*|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	94										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCTTCTCCCAAGTCCTAAG	0.622000														39			24		0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31608000	31608000	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31608000A>G	uc003nvg.4	-	22	3446	c.3132T>C	c.(3130-3132)agT>agC	p.S1044S	BAG6_uc003nvf.4_Silent_p.S1038S|BAG6_uc003nvi.4_Silent_p.S1038S|BAG6_uc003nvh.4_Silent_p.S1038S|BAG6_uc011dnw.2_Silent_p.S1038S|BAG6_uc011dnx.2_Silent_p.S864S	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	1044					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGGCATACCACTGAGGTAGG	0.527000														53			21		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517932	1517932	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1517932T>G	uc002wfi.3	-	2	490	c.446A>C	c.(445-447)aAc>aCc	p.N149T		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	149						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGCAGGTCTGTTCTTGGGAGG	0.522000														121			28		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225661686	225661686	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:225661686A>C	uc010fwz.1	-	42	5061	c.4822T>G	c.(4822-4824)Tta>Gta	p.L1608V	DOCK10_uc002vob.2_Missense_Mutation_p.L1602V|DOCK10_uc002voa.2_Missense_Mutation_p.L264V|DOCK10_uc002voc.2_Missense_Mutation_p.L462V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1608	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTACTTGTAAGTGGGACCGG	0.438000														117			10		0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797230	49797230	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49797230A>C	uc002pmz.3	-	8	1706	c.1472T>G	c.(1471-1473)cTt>cGt	p.L491R	SLC6A16_uc002pna.3_Missense_Mutation_p.L491R	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	491						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGACGGAGGAAGGAAGGACAT	0.478000														91			6		0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197767465	197767465	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:197767465A>C	uc002utw.3	-	5	764	c.650_splice	c.e5-1	p.D217_splice	PGAP1_uc002utx.3_Splice_Site_p.D43_splice|PGAP1_uc002uty.1_Splice_Site_p.D217_splice|PGAP1_uc010zgv.1_Splice_Site|PGAP1_uc010fsj.2_Splice_Site_p.D43_splice	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	217					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCGTATAAAAATCTGGTGGGG	0.328000														20			3		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123587257	123587257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123587257G>A	uc010nqy.3	-	22	4098	c.4034C>T	c.(4033-4035)aCt>aTt	p.T1345I	ODZ1_uc011muj.2_Missense_Mutation_p.T1344I|ODZ1_uc004euj.3_Missense_Mutation_p.T1338I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1338					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCCGATTACAGTTGTGATCAC	0.428000														0			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664256	179664256	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179664256G>A	uc021vsy.1	-	5	1097	c.872C>T	c.(871-873)tCc>tTc	p.S291F	TTN_uc021vsz.1_Missense_Mutation_p.S291F|TTN_uc021vta.1_Missense_Mutation_p.S291F|TTN_uc021vtb.1_Missense_Mutation_p.S291F|TTN_uc002unb.2_Missense_Mutation_p.S291F|TTN_uc002und.3_Missense_Mutation_p.S291F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	291	ZIS1.						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)			TCTGACCGGGGAAGGGGAGTG	0.557000														22			16		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767078	88767078	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88767078G>A	uc021xpx.1	+	3	1163	c.1151G>A	c.(1150-1152)aGa>aAa	p.R384K	MEPE_uc021xpu.1_Missense_Mutation_p.R353K|MEPE_uc021xpv.1_Missense_Mutation_p.R240K|MEPE_uc021xpw.1_Missense_Mutation_p.R240K|MEPE_uc010ikn.3_Missense_Mutation_p.R240K|MEPE_uc003hqy.3_Missense_Mutation_p.R353K|MEPE_uc021xpy.1_Missense_Mutation_p.R240K	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	353					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CTCCCTGGAAGAGAAGGAAAC	0.478000														26			6		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43113057	43113057	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43113057T>C	uc011dve.1	+	15	2593	c.2551T>C	c.(2551-2553)Ttc>Ctc	p.F851L	PTK7_uc003oub.1_Missense_Mutation_p.F843L|PTK7_uc003ouc.1_Missense_Mutation_p.F787L|PTK7_uc003oud.1_Missense_Mutation_p.F803L|PTK7_uc003oue.1_Missense_Mutation_p.F713L|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Missense_Mutation_p.F169L	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	843	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGCTGGACTTCCGGAGGGA	0.617000														67			15		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49392824	49392824	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49392824C>T	uc002pkz.2	-	6	730	c.579G>A	c.(577-579)atG>atA	p.M193I		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	193					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGTTTGGTCCCATATTGGGTG	0.473000														65			40		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37512591	37512591	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37512591C>T	uc004aac.3	-	10	2952	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K	FBXO10_uc004aab.3_Missense_Mutation_p.E942K|FBXO10_uc004aad.3_Missense_Mutation_p.E492K	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	942						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TAACCACCTTCCACCCGGGCT	0.592000														61			73		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610131	95610131	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95610131G>A	uc004asu.1	-	4	1087	c.938C>T	c.(937-939)tCc>tTc	p.S313F	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S315F|ZNF484_uc004asv.1_Missense_Mutation_p.S277F|ZNF484_uc010mrb.1_Missense_Mutation_p.S277F	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGACTTGAGGGAAAAATCCTT	0.433000														51			22		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54401274	54401274	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54401274C>T	uc002qcq.1	+	9	1283	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	PRKCG_uc010yef.1_Missense_Mutation_p.P305S|PRKCG_uc010yeg.1_Missense_Mutation_p.P334L|PRKCG_uc010yeh.1_Missense_Mutation_p.P221L	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	334					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCACCGACCCCAAGCGCTGC	0.587000														92			30		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447073	17447073	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:17447073A>T	uc003wxr.3	+	2	597	c.152A>T	c.(151-153)aAa>aTa	p.K51I		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	51						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AAAATTCCTAAAATGAAGGAC	0.483000														134			33		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121416810	121416810	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:121416810A>G	uc001tzg.3	+	0	262	c.239A>G	c.(238-240)gAc>gGc	p.D80G	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.D80G|HNF1A_uc001tzf.3_Missense_Mutation_p.D80G|HNF1A_uc010szn.2_Missense_Mutation_p.D80G|HNF1A_uc021rfa.1_Missense_Mutation_p.D80G|HNF1A_uc021rfb.1_Missense_Mutation_p.T19A|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	80	Asp/Glu-rich (acidic; potential involvement with transcription).				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGGGGAAGACTTCACGCCA	0.667000									Hepatic Adenoma, Familial Clustering of					5			5		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667558	65667558	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:65667558A>C	uc002aos.2	-	1	538	c.286T>G	c.(286-288)Ttg>Gtg	p.L96V		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	96	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATCATCAAGGACCCATTG	0.612000														16			9		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495188	32495188	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32495188G>A	uc003amc.3	+	11	1549	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	SLC5A1_uc011alz.2_Silent_p.L306L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	433					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCCTGGTGCTGATTGGCATCA	0.408000														54			76		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039273	248039273	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248039273G>A	uc001ido.3	+	5	991	c.943G>A	c.(943-945)Gat>Aat	p.D315N	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	315	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGTGTGCAGGATGGAGAACC	0.582000														25			21		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121659238	121659238	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:121659238A>C	uc003vjy.3	+	12	5299	c.4904A>C	c.(4903-4905)aAg>aCg	p.K1635T	PTPRZ1_uc011knt.2_Missense_Mutation_p.K775T|PTPRZ1_uc003vjz.3_Missense_Mutation_p.K775T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1635					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAATCCGAGAAGAAGGCAGTT	0.433000														42			18		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779561	36779561	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36779561C>T	uc003cgi.2	-	1	1081	c.590G>A	c.(589-591)gGg>gAg	p.G197E		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	197						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCCTTCCACCCTTCCTCCCC	0.582000														31			43		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71941504	71941504	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71941504A>G	uc001osf.3	+	9	1336	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	INPPL1_uc001osg.3_Missense_Mutation_p.S155G	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	397					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CATCTTTGTCAGTGCCCGGGT	0.587000														47			13		0	0	1	0	0
C14orf45	80127	broad.mit.edu	37	14	74512815	74512815	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74512815C>T	uc010tup.2	+	5	752	c.629C>T	c.(628-630)gCc>gTc	p.A210V	C14orf45_uc001xpm.1_Intron	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	210										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		GCAGAGAGAGCCCACCATGAG	0.403000														9			7		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159986273	159986273	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:159986273A>C	uc021xgr.1	-	17	2197	c.2151T>G	c.(2149-2151)gcT>gcG	p.A717A	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.A580A|IFT80_uc021xgq.1_Silent_p.A715A|IFT80_uc003fde.2_Silent_p.A580A|IFT80_uc003fdd.2_Silent_p.A400A	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	717						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGACGGTAAGCAAGAACTG	0.318000														97			8		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488207	14488207	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:14488207C>T	uc003jff.3	+	47	7476	c.7470C>T	c.(7468-7470)ccC>ccT	p.P2490P	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Silent_p.P2139P	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2490					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTCCATCCCCGCCTCCCCCG	0.716000														33			14		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285527	238285527	+	Silent	SNP	G	A	A	rs145203676		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238285527G>A	uc002vwl.2	-	6	3243	c.2958C>T	c.(2956-2958)atC>atT	p.I986I	COL6A3_uc002vwo.2_Silent_p.I780I|COL6A3_uc010znj.1_Silent_p.I379I|COL6A3_uc002vwq.3_Silent_p.I780I|COL6A3_uc002vwr.3_Silent_p.I579I|COL6A3_uc010znk.1_Silent_p.I786I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	986	Nonhelical region.|VWFA 5.				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)		GAGACAGCACGATCTGCTCTA	0.512000														107			48		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016747	1016747	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1016747A>G	uc001lsw.2	-	30	6105	c.6054T>C	c.(6052-6054)acT>acC	p.T2018T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2018	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTACTTGGAGTCACCAAGG	0.547000														692			6		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079017	10079017	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:10079017G>A	uc021xlv.1	-	13	1908	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	WDR1_uc021xlw.1_Missense_Mutation_p.P402L|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	542					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TTCATTGTCTGGGGACCAGGC	0.507000														5			68		0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17403476	17403476	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17403476C>T	uc002ngb.4	-	4	1554	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	438							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCGGCTACTTCTTGTCTTCTG	0.692000														15			13		0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85630540	85630540	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85630540A>C	uc001pbg.1	+	11	1834	c.1322A>C	c.(1321-1323)aAg>aCg	p.K441T	CCDC83_uc001pbh.1_Missense_Mutation_p.K410T|CCDC83_uc001pbj.1_Missense_Mutation_p.K310T|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	410										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGATGATGAAGTCTTTTCTC	0.373000														12			9		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114165484	114165484	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114165484C>T	uc001edk.3	+	8	1409	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	MAGI3_uc001edh.3_Nonsense_Mutation_p.R435*|MAGI3_uc001edi.4_Nonsense_Mutation_p.R410*|MAGI3_uc010owm.2_Nonsense_Mutation_p.R435*|MAGI3_uc001edj.3_Nonsense_Mutation_p.R131*	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	435					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCCTTGTTCGAGCATCACT	0.378000														29			21		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101591524	101591524	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:101591524G>A	uc001kqf.2	+	21	3179	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1014	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.T1013T(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAATAGCACCGACTATCCAGC	0.463000														4			41		0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936775	150936775	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150936775T>G	uc003wjs.3	-	10	1332	c.1231A>C	c.(1231-1233)Agc>Cgc	p.S411R	SMARCD3_uc003wjt.3_Missense_Mutation_p.S398R|SMARCD3_uc003wju.3_Missense_Mutation_p.S398R	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	411					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGAGAAGCTTAGCATGAAG	0.522000														86			15		0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43533857	43533857	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:43533857A>G	uc003job.3	-	8	1482	c.1235T>C	c.(1234-1236)tTc>tCc	p.F412S	PAIP1_uc003joa.3_Missense_Mutation_p.F333S|PAIP1_uc003joc.3_Missense_Mutation_p.F300S	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	412					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AGCTGCAGTGAAAGGAACACC	0.358000														153			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077847	9077847	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9077847G>A	uc002mkp.3	-	2	9803	c.9599C>T	c.(9598-9600)cCa>cTa	p.P3200L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3201	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACATTTCTGGGCTTCCTGG	0.433000														61			58		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21562383	21562383	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21562383A>C	uc001bek.2	-	12	1601	c.1526T>G	c.(1525-1527)tTc>tGc	p.F509C	ECE1_uc001bem.2_Missense_Mutation_p.F493C|ECE1_uc001bej.2_Missense_Mutation_p.F497C|ECE1_uc001bei.2_Missense_Mutation_p.F506C|ECE1_uc010odl.1_Missense_Mutation_p.F509C|ECE1_uc009vqa.1_Missense_Mutation_p.F509C	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATCCATGATGAAGTTGGGGTA	0.547000														206			8		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55362682	55362682	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55362682C>T	uc002qho.4	+	1	75	c.42C>T	c.(40-42)ttC>ttT	p.F14F	KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Silent_p.F14F	NM_006737	NP_006728	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA.	14					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGTTCTTCTTGCTGCAGG	0.562000														111			83		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915552	131915552	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131915552A>G	uc003kxi.3	+	5	953	c.552_splice	c.e5-2	p.R184_splice	RAD50_uc003kxg.1_Splice_Site_p.R85_splice|RAD50_uc003kxh.3_Splice_Site_p.R45_splice	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	184					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATATCTTCAAAGATACATTAA	0.308000								Homologous recombination						13			3		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117170978	117170978	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117170978T>G	uc003vjd.3	+	3	431	c.299T>G	c.(298-300)cTc>cGc	p.L100R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	100	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTACAGCCTCTCTTACTGGGA	0.388000									Cystic Fibrosis					13			8		0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184679652	184679652	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:184679652G>A	uc010pom.2	-	15	1982	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	EDEM3_uc010pok.2_Missense_Mutation_p.P574L|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	574					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.A574V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCAGAGGGGGTTTAGCTCC	0.413000														61			24		0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32409397	32409397	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32409397T>C	uc002rof.2	+	5	454	c.394T>C	c.(394-396)Tat>Cat	p.Y132H	SLC30A6_uc002roe.2_Missense_Mutation_p.Y92H|SLC30A6_uc010ymw.2_Missense_Mutation_p.Y63H|SLC30A6_uc010ezr.2_Missense_Mutation_p.Y92H|SLC30A6_uc002rog.2_5'UTR|SLC30A6_uc010ezs.2_Missense_Mutation_p.Y18H|SLC30A6_uc002roh.2_Intron	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	92						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGCCCTGTCTATTCATTTGG	0.274000														17			3		0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15430522	15430522	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:15430522G>A	uc003stb.1	-	6	855	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	229					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.N228D(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGCAATAACGATTTCTGCCT	0.234000														6			3		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717378	222717378	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:222717378C>T	uc001hnh.1	-	1	533	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	159					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCATGAGACTCCTGGAGGCCG	0.557000														78			71		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857567	14857567	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:14857567C>T	uc003zlm.3	-	5	1628	c.812G>A	c.(811-813)aGc>aAc	p.S271N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	271					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)		CACAATTTTGCTCCTGGTATC	0.502000														81			39		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888439	183888440	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183888439_183888440CC>TT	uc003fms.3	+	14	2187_2188	c.2047_2048CC>TT	c.(2047-2049)ccg>TTg	p.P683L	DVL3_uc011bqw.2_Missense_Mutation_p.P666L|DVL3_uc003fmt.3_Missense_Mutation_p.P354L|DVL3_uc003fmu.3_Missense_Mutation_p.P515L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	683				PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGAGCCCCTCCGGGCCGCGAC	0.693000														49			5		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661474	77661474	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77661474G>A	uc011cbx.2	+	4	3101	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	SHROOM3_uc011cbz.1_Silent_p.L540L|SHROOM3_uc003hkf.1_Silent_p.L591L|SHROOM3_uc003hkg.3_Silent_p.L494L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	716					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGCCATCTGGACCGGCAGG	0.672000														99			35		0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89477478	89477478	+	Missense_Mutation	SNP	C	T	T	rs139351895	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89477478C>T	uc001dmt.3	-	6	1306	c.1101G>A	c.(1099-1101)atG>atA	p.M367I	GBP3_uc010oss.2_Missense_Mutation_p.M288I|GBP3_uc001dmu.3_Missense_Mutation_p.M233I|GBP3_uc001dmv.3_Intron|GBP3_uc021opp.1_Intron	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	367						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AAGAGTTCTTCATATAGACTT	0.468000														38			29		0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82348391	82348391	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:82348391A>G	uc001kck.1	+	3	931	c.501A>G	c.(499-501)aaA>aaG	p.K167K	SH2D4B_uc001kcl.1_Silent_p.K118K	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	166	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TTTAGAGGAAAGAGGAAGAGG	0.507000														21			5		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475196	5475197	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5475196_5475197CC>TT	uc010qzf.2	+	0	559_560	c.478_479CC>TT	c.(478-480)ccc>TTc	p.P160F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160S(4)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCCTCTTCCCTTTCTTATT	0.495000														45			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757688	106757688	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106757688C>T	uc021ser.1	-	749		c.19690G>A								Parts of antibodies, mostly variable regions.																		TCCACAGGGTCCATGTTGGTC	0.517000														74			78		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903278	22903278	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22903278C>T	uc001bfx.1	+	2	853	c.728C>T	c.(727-729)cCc>cTc	p.P243L	EPHA8_uc001bfw.3_Missense_Mutation_p.P243L	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	243	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGGACACACCCAAGATGTAC	0.667000														61			15		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162184	142162184	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142162184T>G	uc011krx.2	-	1	106	c.91A>C	c.(91-93)Atc>Ctc	p.I31L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.I31L					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		ATCTTCAGGATGCGGAATTTT	0.522000														60			52		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14791479	14791479	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:14791479G>A	uc010dlo.2	+	15	1994	c.1814G>A	c.(1813-1815)gGa>gAa	p.G605E	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.G605E	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	605										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCTTAAGTGGAAAATTAGAA	0.308000														28			15		0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10449580	10449580	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10449580G>A	uc002mob.2	-	1	176	c.121C>T	c.(121-123)Cct>Tct	p.P41S	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	41					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GAGAGCACAGGGTTCTGGGGC	0.547000														35			23		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346524	89346524	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:89346524G>A	uc002fmx.1	-	8	6887	c.6426C>T	c.(6424-6426)ccC>ccT	p.P2142P	ANKRD11_uc002fmy.1_Silent_p.P2142P|ANKRD11_uc002fnc.1_Silent_p.P2142P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P2099P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2142	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGTCTGCAGGGGAAGCTCCG	0.662000														13			8		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87024365	87024365	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87024365C>T	uc003hps.3	-	5	1085	c.399G>A	c.(397-399)caG>caA	p.Q133Q	MAPK10_uc010ikg.3_Silent_p.Q95Q|MAPK10_uc003hpr.3_Silent_p.Q95Q|MAPK10_uc003hpt.3_Silent_p.Q133Q|MAPK10_uc003hpu.3_Silent_p.Q133Q|MAPK10_uc003hpv.3_Intron|MAPK10_uc010ikh.1_Intron|MAPK10_uc011ccw.2_Silent_p.Q19Q|MAPK10_uc003hpo.3_Intron|MAPK10_uc003hpp.3_Intron	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	133	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCAGCGTTTTCTGGGGTGTGA	0.398000														46			20		0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33746049	33746049	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33746049A>T	uc001bxc.1	+	4	844	c.674A>T	c.(673-675)aAg>aTg	p.K225M		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGGAGGGCAAGACGTACAGG	0.672000														16			4		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520849	64520849	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:64520849C>T	uc003jtp.3	-	16	2907	c.2093G>A	c.(2092-2094)gGa>gAa	p.G698E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G319E	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	698					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)		AGCATCAGATCCCAAAATATT	0.423000														17			11		0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349258	226349258	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226349258T>G	uc001hpy.3	-	3	749	c.702A>C	c.(700-702)gaA>gaC	p.E234D		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	234	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GAAGcctttcttcttctatcc	0.393000														78			10		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118319964	118319964	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:118319964A>C	uc001lcm.3	+	10	1140	c.1097A>C	c.(1096-1098)aAa>aCa	p.K366T		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	366	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTGTCTGGAAAAAAGGTTACA	0.333000														33			12		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86938513	86938513	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:86938513C>T	uc003hps.3	-	13	1949	c.1263G>A	c.(1261-1263)gtG>gtA	p.V421V	MAPK10_uc010ikg.3_Silent_p.V383V|MAPK10_uc003hpr.3_Silent_p.V383V|MAPK10_uc003hpt.3_Silent_p.*423*|MAPK10_uc003hpu.3_Silent_p.V421V|MAPK10_uc003hpv.3_Silent_p.V276V|MAPK10_uc003hpn.3_Silent_p.V169V|MAPK10_uc011ccw.2_Silent_p.*309*|MAPK10_uc003hpo.3_Silent_p.V276V|MAPK10_uc003hpp.3_Silent_p.*278*	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	421					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACTGCTGTTCACTGCTGCAC	0.498000														44			63		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477696	35477696	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35477696C>T	uc003okv.4	-	5	521	c.509G>A	c.(508-510)gGa>gAa	p.G170E	TULP1_uc003okw.4_Missense_Mutation_p.G117E|TULP1_uc021yyx.1_Missense_Mutation_p.G170E|TULP1_uc021yyy.1_Missense_Mutation_p.G170E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	170					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAGGGCTTCCCAGGTCTCC	0.567000														72			55		0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33530422	33530422	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33530422G>A	uc002xbg.3	-	4	440	c.360C>T	c.(358-360)ttC>ttT	p.F120F	GSS_uc010zun.2_5'UTR|GSS_uc010zuo.2_Intron|GSS_uc010zup.2_Silent_p.F51F|GSS_uc010gez.1_Intron	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	120					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAGGCCCAGGAACACAGTCT	0.552000														35			12		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988680	137988680	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:137988680C>T	uc002tva.1	+	6	1697	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P456L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTGAAATTCCCTGCCGAATG	0.483000														26			5		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37295899	37295899	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37295899A>C	uc002rpp.1	-	7	1198	c.1102T>G	c.(1102-1104)Ttg>Gtg	p.L368V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	368							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCACCTAGCAAACTGCCCACA	0.448000														40			4		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049027	2049027	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2049027G>A	uc002cof.1	-	11	2164	c.2149C>T	c.(2149-2151)Ctt>Ttt	p.L717F	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Missense_Mutation_p.L81F	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	717	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTAGGCAGAAGGCCAGAGAAG	0.701000														5			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994042	140994042	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:140994042C>T	uc004fbt.3	+	3	1176	c.852C>T	c.(850-852)ttC>ttT	p.F284F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.493000										HNSCC(15;0.026)				157			20		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277162	114277162	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:114277162C>T	uc003ibe.4	+	37	7488	c.7388C>T	c.(7387-7389)tCc>tTc	p.S2463F	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2478F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2430					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAAAGAATCCCCTTGCCGT	0.493000														38			49		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409492	130409492	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:130409492G>A	uc004ewe.4	-	15	3442	c.3159C>T	c.(3157-3159)atC>atT	p.I1053I	IGSF1_uc004ewd.3_Silent_p.I1048I|IGSF1_uc022cdv.1_Silent_p.I1039I|IGSF1_uc004ewf.2_Silent_p.I1028I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1048	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTGTATCTTGATAGAACTGG	0.507000														30			26		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467968	6467968	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6467968G>A	uc002mfe.3	-	22	2045	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	DENND1C_uc002mfb.3_Silent_p.V201V|DENND1C_uc002mfc.3_Silent_p.V201V|DENND1C_uc002mfd.3_Silent_p.V201V|DENND1C_uc010xje.2_Silent_p.V607V	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	651						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ATGGAGACGTGACTTCTTGGT	0.557000														21			16		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25849203	25849203	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:25849203T>G	uc003gru.4	-	1	598	c.446A>C	c.(445-447)aAa>aCa	p.K149T		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	149						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTTGGAAATTTCACATGTAC	0.388000														15			12		0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177735	146177735	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:146177735A>C	uc021xfa.1	-	3	616	c.176T>G	c.(175-177)aTt>aGt	p.I59S	PLSCR2_uc003evw.2_Missense_Mutation_p.I55S|PLSCR2_uc003evv.2_5'UTR	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	108					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A58S(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTGAACAGGAATGCCAGCTGT	0.557000														63			8		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107818537	107818537	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:107818537A>T	uc022aka.1	-	22	2978	c.2872T>A	c.(2872-2874)Ttg>Atg	p.L958M	NRCAM_uc011kmk.2_Missense_Mutation_p.L958M|NRCAM_uc003vfd.3_Missense_Mutation_p.L939M|NRCAM_uc003vfe.3_Missense_Mutation_p.L939M|NRCAM_uc003vfc.3_Missense_Mutation_p.L942M|NRCAM_uc011kmj.2_5'Flank	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	958	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAATCTTCAAAGACGAGGGA	0.443000														43			11		0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768653	45768653	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:45768653T>G	uc001uzx.4	-	1	454	c.50A>C	c.(49-51)aAa>aCa	p.K17T	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Missense_Mutation_p.K17T	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	17						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GCTGTTGTGTTTCCCTTCATA	0.353000														79			18		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101680202	101680202	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101680202T>A	uc001tia.1	+	4	586	c.430T>A	c.(430-432)Ttg>Atg	p.L144M	UTP20_uc009ztz.1_Missense_Mutation_p.L144M	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	144					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.E143Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGACACAGAGTTGTTAGAATG	0.438000														49			33		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33764265	33764265	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:33764265G>A	uc002rox.3	+	12	1893	c.1266G>A	c.(1264-1266)agG>agA	p.R422R	RASGRP3_uc010ync.2_Silent_p.R422R|RASGRP3_uc002roy.3_Silent_p.R421R	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	422	EF-hand 1.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCACATAAGGAAATTAGTGG	0.512000														6			5		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067555	190067555	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:190067555G>A	uc001gse.1	-	7	2126	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	FAM5C_uc010pot.1_Missense_Mutation_p.R530C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	632						extracellular region		p.R632C(2)		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)					GACTTGATGCGACTTCTCAGG	0.423000														113			114		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355282	175355282	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:175355282G>A	uc001gkp.1	-	5	1744	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	TNR_uc009wwu.1_Missense_Mutation_p.P555S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	555	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCTCAGGGGAGGCTGCAGC	0.607000														34			41		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357071	149357071	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:149357071C>T	uc003ilj.4	-	1	1305	c.942G>A	c.(940-942)tcG>tcA	p.S314S	NR3C2_uc003ilk.4_Silent_p.S314S|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	314	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TATTAGTGTTCGAAGGGCTGG	0.473000														28			39		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72410592	72410592	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72410592T>G	uc001osu.3	-	16	2497	c.2308A>C	c.(2308-2310)Agc>Cgc	p.S770R	ARAP1_uc001osv.3_Missense_Mutation_p.S770R|ARAP1_uc001osr.3_Missense_Mutation_p.S530R|ARAP1_uc001oss.3_Missense_Mutation_p.S525R|ARAP1_uc009yth.3_Missense_Mutation_p.S464R|ARAP1_uc010rre.2_Missense_Mutation_p.S525R	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	770	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CAGCGCCGGCTGAACTCTGGG	0.622000														15			3		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840449	27840449	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:27840449G>A	uc022bud.1	+	0	1026	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	MAGEB10_uc004dbw.3_Silent_p.K342K	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	342										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGTCCAGCAAGTCCTCCCAAC	0.512000														1			23		0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129832632	129832632	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129832632G>A	uc003vpn.2	-	5	728	c.605C>T	c.(604-606)cCg>cTg	p.P202L	TMEM209_uc010lmc.1_Missense_Mutation_p.P202L	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	202	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGTAGGGTACGGAGAAGGAGG	0.408000														27			19		0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41020921	41020921	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:41020921T>C	uc001zmi.4	+	6	842	c.543T>C	c.(541-543)tcT>tcC	p.S181S	RAD51_uc010bbw.3_Silent_p.S181S|RAD51_uc010bbx.3_Silent_p.S182S|RAD51_uc001zml.4_Silent_p.S182S	NM_002875	NP_002866	Q06609	RAD51_HUMAN	Homo sapiens RAD51 homolog (S. cerevisiae) (RAD51), transcript variant 1, mRNA.	181					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	PML body|mitochondrial matrix|nucleus|perinuclear region of cytoplasm	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ATGGTCTCTCTGGCAGTGATG	0.443000								Homologous recombination						76			58		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12693674	12693674	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12693674T>G	uc002mtz.2	-	3	469	c.340A>C	c.(340-342)Aga>Cga	p.R114R		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	114	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTAGATTTCTTCCCTGGTTT	0.323000														87			20		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713798	50713798	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50713798C>G	uc010enu.1	+	1	223	c.176C>G	c.(175-177)cCt>cGt	p.P59R	MYH14_uc002prq.1_Missense_Mutation_p.P59R|MYH14_uc002prr.1_Missense_Mutation_p.P59R	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	59	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGTGGGTGCCTTCGGAGCTT	0.761000														6			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065739	9065739	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9065739A>T	uc002mkp.3	-	2	21911	c.21707T>A	c.(21706-21708)aTt>aAt	p.I7236N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7238	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTTTCTGAATTCTGCTAGT	0.468000														91			82		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996262	31996262	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31996262G>A	uc011dpd.2	+	24	3234	c.3183G>A	c.(3181-3183)aaG>aaA	p.K1061K	C4B_uc011dpe.2_Silent_p.K1061K	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1061					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGTTTCGGAAGGCGGATGGTT	0.622000														35			38		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216158	11216159	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11216158_11216159GG>AA	uc002mqk.4	+	3	763_764	c.576_577GG>AA	c.(574-579)ggggac>ggAAac	p.D193N	LDLR_uc010xlk.2_Missense_Mutation_p.D193N|LDLR_uc010xll.2_Missense_Mutation_p.D152N|LDLR_uc021upc.1_Missense_Mutation_p.D72N|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.D46N|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	193					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGTTCCAAGGGGACAGTAGCCC	0.629000														32			30		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544154	82544154	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82544154G>A	uc003uhx.2	-	6	13437	c.13148C>T	c.(13147-13149)cCa>cTa	p.P4383L	PCLO_uc003uhv.2_Missense_Mutation_p.P4383L|PCLO_uc010lec.3_Missense_Mutation_p.P1348L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4314					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						TGCAGATATTGGTGGCAGGGG	0.527000														32			21		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33132170	33132170	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33132170G>A	uc003ocx.1	-	64	5172	c.4944C>T	c.(4942-4944)caC>caT	p.H1648H	COL11A2_uc010jul.1_Silent_p.H218H|COL11A2_uc003ocy.1_Silent_p.H1562H|COL11A2_uc003ocz.1_Silent_p.H1541H	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1648	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGACGTCCTGGTGGGCTGAGA	0.637000														11			10		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904457	55904457	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55904457T>G	uc010riz.2	-	0	738	c.738A>C	c.(736-738)atA>atC	p.I246I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M245V(1)|p.M245I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CCGTGACTGCTATCATATGCG	0.398000														33			33		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883060	228883060	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228883060C>T	uc002vpq.2	-	6	2557	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G837E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G837E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	837						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCTGCTATTCCTTTCAGATA	0.478000														46			19		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143144	55143144	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55143144C>T	uc002qgj.3	+	4	604	c.264C>T	c.(262-264)atC>atT	p.I88I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.I88I|LILRB1_uc002qgk.3_Silent_p.I88I|LILRB1_uc002qgm.3_Silent_p.I88I|LILRB1_uc010erq.3_Silent_p.I88I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	88	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCCATCCATCACCTGGGAAC	0.557000										HNSCC(37;0.09)				129			65		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2979865	2979865	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2979865A>G	uc002csd.3	+	2	542	c.179A>G	c.(178-180)cAg>cGg	p.Q60R	FLYWCH1_uc002csb.3_Missense_Mutation_p.Q60R|FLYWCH1_uc002csc.3_Missense_Mutation_p.Q60R	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	60						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						TCCAAGCCCCAGGAAGTGCAC	0.652000														30			8		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166162	19166162	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:19166162G>A	uc001bba.1	-	5	2452	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	817					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.L816P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCTCCGGGTAGAAGAGGATCA	0.617000														49			8		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506726	11506727	+	Missense_Mutation	DNP	CC	TT	TT	rs144687469		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11506726_11506727CC>TT	uc001qzw.1	-	2	347_348	c.310_311GG>AA	c.(310-312)gga>AAa	p.G104K	PRB1_uc001qzu.1_Missense_Mutation_p.G104K|PRB1_uc001qzv.1_Missense_Mutation_p.G104K	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	104	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGGT	0.619000														499			91		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771254	37771254	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37771254G>A	uc003asq.4	-	2	1107	c.321C>T	c.(319-321)gtC>gtT	p.V107V	ELFN2_uc021wph.1_Silent_p.V107V	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	107						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCAGCTGCAGGACCTGCAGGC	0.602000														33			32		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86361729	86361729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:86361729C>T	uc001dlj.3	-	29	2927	c.2852G>A	c.(2851-2853)gGa>gAa	p.G951E	COL24A1_uc001dli.3_Missense_Mutation_p.G87E|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G251E|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	951	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCCTCTTTTTCCTTGATCTCC	0.318000														21			16		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18745686	18745686	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18745686T>C	uc009yht.2	-	1	288	c.98A>G	c.(97-99)aAg>aGg	p.K33R	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	33										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCCACGATCTTGGTTGTCTG	0.587000														81			18		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711135	4711135	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4711135A>T	uc002fzc.3	+	1	194	c.68A>T	c.(67-69)gAg>gTg	p.E23V	PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Missense_Mutation_p.E23V	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	23					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTCCAGATGGAGTCCGATGAG	0.637000														33			9		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122766751	122766751	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:122766751C>A	uc003ied.3	-	10	1322	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	BBS7_uc003iee.2_Missense_Mutation_p.G380C	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	380					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATTTATACCAAAGGAAGGT	0.343000									Bardet-Biedl syndrome					27			8		5.18039e-06	5.1912e-06	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21529810	21529810	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21529810T>C	uc002kuq.3	+	70	9519	c.9433T>C	c.(9433-9435)Ttc>Ctc	p.F3145L	LAMA3_uc002kur.3_Missense_Mutation_p.F3089L|LAMA3_uc002kus.4_Missense_Mutation_p.F1536L|LAMA3_uc002kut.4_Missense_Mutation_p.F1480L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3145	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTCAAGCTTCGGGGTGTC	0.473000														46			50		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76915228	76915228	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76915228G>A	uc001oyb.2	+	38	5706	c.5434G>A	c.(5434-5436)Gag>Aag	p.E1812K	MYO7A_uc001oyc.2_Missense_Mutation_p.E1774K|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1812	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGAAGGACGAGGCATATGT	0.607000														5			5		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49728662	49728662	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49728662G>A	uc003cxh.3	+	1	150	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MST1_uc003cxg.3_5'Flank|MST1_uc011bcs.1_5'Flank|MST1_uc010hkx.2_5'Flank|MST1_uc011bct.1_5'Flank|MST1_uc011bcu.1_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	22						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCAGATGCTGAGAAATCCAG	0.587000														13			27		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16035410	16035410	+	Missense_Mutation	SNP	C	T	T	rs143927568	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:16035410C>T	uc010lsu.3	-	1	206	c.142G>A	c.(142-144)Gct>Act	p.A48T	MSR1_uc003wwz.3_Missense_Mutation_p.A30T|MSR1_uc003wxa.3_Missense_Mutation_p.A30T|MSR1_uc003wxb.3_Missense_Mutation_p.A30T|MSR1_uc011kxz.2_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	30					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGAAGCAAAGCTGTCATTGAG	0.428000														16			15		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339687	116339687	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:116339687A>C	uc003vij.3	+	1	736	c.549A>C	c.(547-549)aaA>aaC	p.K183N	MET_uc022akk.1_Missense_Mutation_p.K183N|MET_uc010lkh.3_Missense_Mutation_p.K183N|MET_uc011knc.1_Missense_Mutation_p.K183N|MET_uc011knd.2_Missense_Mutation_p.K183N|MET_uc011knf.2_Missense_Mutation_p.K183N|MET_uc011kne.2_Missense_Mutation_p.K183N|MET_uc011kng.1_Missense_Mutation_p.K183N|MET_uc011knh.1_Missense_Mutation_p.K183N|MET_uc011kni.2_Missense_Mutation_p.K183N|MET_uc003vii.1_Missense_Mutation_p.K202N|MET_uc010lkg.3_Missense_Mutation_p.K183N|MET_uc011kmz.1_Missense_Mutation_p.K183N|MET_uc011kna.1_Missense_Mutation_p.K183N|MET_uc011knb.1_Missense_Mutation_p.K183N	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	183	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGGGAGCCAAAGTCCTTTCAT	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					107			22		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73962509C>T	uc004eby.3	-	2	2500	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	628					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGATTTTCGTTTGCGAGC	0.418000														14			11		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068306	89068306	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:89068306A>C	uc001xww.3	+	10	1618	c.1393A>C	c.(1393-1395)Aga>Cga	p.R465R	ZC3H14_uc010twd.2_Silent_p.R465R|ZC3H14_uc010twe.2_Silent_p.R465R|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Silent_p.R10R|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	465						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TGCAGACACAAGATCATTTAT	0.413000														61			17		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	A	A	rs142762485		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:189612073G>A	uc003fry.2	+	13	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E515K|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E430K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	609					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)				121			50		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68580005	68580005	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68580005T>G	uc001oog.4	-	2	351	c.181A>C	c.(181-183)Agt>Cgt	p.S61R	CPT1A_uc001oof.4_Missense_Mutation_p.S61R	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATAAGCCAACTGGAGGGGCTT	0.562000														48			9		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976675	119976675	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:119976675C>T	uc004bjt.2	-	2	1078	c.977G>A	c.(976-978)gGa>gAa	p.G326E	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	326						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCTGGATGTCCCAGACTGTC	0.557000														35			72		0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262816	232262816	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:232262816A>C	uc002vrs.3	+	1	566	c.386A>C	c.(385-387)aAg>aCg	p.K129T		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	129					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CACCCGGAGAAGTGCAGGGGC	0.657000														22			18		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352339	113352339	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:113352339C>T	uc003ian.4	+	10	1863	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	ALPK1_uc003iap.4_Nonsense_Mutation_p.R546*|ALPK1_uc011cfx.2_Nonsense_Mutation_p.R468*|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Nonsense_Mutation_p.R374*	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	546							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGATGCATTTCGAGTCTCCTT	0.488000														23			36		0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31508228	31508228	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31508228C>T	uc003ntt.3	-	1	740	c.82G>A	c.(82-84)Gag>Aag	p.E28K	DDX39B_uc003ntu.3_Missense_Mutation_p.E28K|DDX39B_uc011dnn.2_Silent_p.L23L|DDX39B_uc003ntv.3_Missense_Mutation_p.E28K|DDX39B_uc003ntw.2_Missense_Mutation_p.E28K|DDX39B_uc003ntx.2_Missense_Mutation_p.E28K|DDX39B_uc011dno.1_Silent_p.L23L|DDX39B_uc011dnp.1_Silent_p.L23L|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	28					RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCAGGGGCCTCAGCCCCATCT	0.567000														47			33		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398122	23398122	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:23398122T>G	uc004dal.4	+	1	774	c.766T>G	c.(766-768)Tca>Gca	p.S256A	PTCHD1_uc010nfu.2_Missense_Mutation_p.S256A	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	256					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACGTCCTCCTCACTGAGGGA	0.507000														91			48		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76802270	76802270	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76802270G>A	uc002jvz.1	-	14	2509	c.2184C>T	c.(2182-2184)gtC>gtT	p.V728V	USP36_uc002jwa.1_Silent_p.V728V|USP36_uc002jwb.1_Silent_p.V365V|USP36_uc002jwc.1_Silent_p.V428V	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	728					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGAGGCAACGACGGGGTGAG	0.632000														49			29		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452184	41452184	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41452184C>T	uc002yyq.1	-	24	4767	c.4315G>A	c.(4315-4317)Gaa>Aaa	p.E1439K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1439	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGAGATTTTCCAAGCGATAG	0.478000														65			18		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628560	205628560	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205628560G>A	uc001hda.1	-	4	1803	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	488					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGTCCAGGCAGATGCCCCGGC	0.657000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			23		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:51174110G>A	uc021tif.1	-	1	2054	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_uc021tid.1_Missense_Mutation_p.P578S|SALL1_uc021tie.1_Missense_Mutation_p.P675S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	675					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P577H(1)|p.P675S(1)		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)			CCCCCAAAAGGAAACTTGGCC	0.582000														3			60		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075829	9075829	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9075829C>T	uc002mkp.3	-	2	11821	c.11617G>A	c.(11617-11619)Gaa>Aaa	p.E3873K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3874	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGATTTTTCTTTCTCATTC	0.458000														34			6		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127245121	127245121	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127245121C>T	uc004boo.1	-	6	1489	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K	NR5A1_uc022bnh.1_Silent_p.K394K	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	434	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						ACAGGTACTCCTTGGCCTGCA	0.622000														16			14		0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19603415	19603415	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19603415G>A	uc010xqt.2	+	3	740	c.428G>A	c.(427-429)aGg>aAg	p.R143K	GATAD2A_uc010xqu.2_Intron|GATAD2A_uc010xqv.2_Missense_Mutation_p.R162K|GATAD2A_uc010xqw.2_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	143					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAACGAGAAAGGATGATCAAG	0.512000														39			34		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400540	89400540	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89400540G>A	uc010upo.1	+	11	5098	c.4724G>A	c.(4723-4725)gGt>gAt	p.G1575D	ACAN_uc010upp.1_Missense_Mutation_p.G1575D|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1575					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAAGGGAGGGTCTAGAGACT	0.537000														53			22		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163138138	163138138	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:163138138T>C	uc001gcn.3	-	1	403	c.65A>G	c.(64-66)aAg>aGg	p.K22R	RGS5_uc021pdu.1_5'UTR|RGS5_uc021pdt.1_Missense_Mutation_p.K22R|RGS5_uc009wvb.3_Intron	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	22					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			AATTCCCAACTTGATCTTAAT	0.458000														91			23		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142190900	142190900	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142190900C>T	uc003yvy.3	+	16	2929	c.2651C>T	c.(2650-2652)cCc>cTc	p.P884L	DENND3_uc010mep.3_Missense_Mutation_p.P845L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	884										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAAATCAACCCCTCGGCGGGG	0.572000														48			13		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33276295	33276295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33276295G>A	uc001bvy.1	-	2	1065	c.277C>T	c.(277-279)Cga>Tga	p.R93*		NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	93					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TAACTGACTCGGAGTTCTAGA	0.473000														48			76		0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8491502	8491502	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8491502T>A	uc002mjv.3	+	3	627	c.186T>A	c.(184-186)ccT>ccA	p.P62P	MARCH2_uc002mjw.3_Silent_p.P62P|MARCH2_uc002mjx.3_Silent_p.P62P	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	62					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G61>?(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GTGATGGTCCTTTCTGCCGGA	0.572000														54			8		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629966	129629966	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:129629966A>C	uc010nrh.3	+	0	1052	c.834A>C	c.(832-834)gaA>gaC	p.E278D	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	278										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TGCACAAAGAAATGGGTCAGC	0.438000														58			30		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														47			43		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64421556	64421556	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64421556C>T	uc001xgl.3	+	7	940	c.710C>T	c.(709-711)tCc>tTc	p.S237F	SYNE2_uc001xgk.3_Missense_Mutation_p.S237F|SYNE2_uc001xgm.3_Missense_Mutation_p.S237F|SYNE2_uc021ruh.1_Missense_Mutation_p.S237F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	237	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCATAGATCCAACAAAGAC	0.403000														27			28		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396529	139396529	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139396529T>G	uc004chz.3	-	28	5396	c.5396A>C	c.(5395-5397)aAc>aCc	p.N1799T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1799					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCTGAAGCGTTCTTCAGGGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				47			19		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38525296	38525296	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:38525296T>G	uc002yvz.3	+	26	2564	c.2459T>G	c.(2458-2460)aTt>aGt	p.I820S	TTC3_uc011aee.1_Missense_Mutation_p.I510S|TTC3_uc002ywa.3_Missense_Mutation_p.I820S|TTC3_uc002ywb.3_Missense_Mutation_p.I820S|TTC3_uc010gnf.3_Missense_Mutation_p.I585S|TTC3_uc002ywc.3_Missense_Mutation_p.I510S|TTC3_uc011aed.1_Missense_Mutation_p.I510S	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	820					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATGACAGAATTCTACAGTGT	0.348000														26			4		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368763	111368763	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111368763G>A	uc003vfy.3	-	53	5872	c.5603C>T	c.(5602-5604)tCt>tTt	p.S1868F	DOCK4_uc011kml.2_Missense_Mutation_p.S704F|DOCK4_uc011kmm.2_Missense_Mutation_p.S692F|DOCK4_uc003vfw.3_Missense_Mutation_p.S1235F|DOCK4_uc003vfx.3_Missense_Mutation_p.S1823F|DOCK4_uc003vfv.3_Missense_Mutation_p.S136F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1823					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGGGTGAAAGACTGCACAGA	0.597000														13			8		0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871007	2871007	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2871007A>C	uc002crt.3	+	4	708	c.602A>C	c.(601-603)aAc>aCc	p.N201T	PRSS21_uc002crr.3_Missense_Mutation_p.N201T|PRSS21_uc002crs.3_Missense_Mutation_p.N199T	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	201	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ATCATAAACAACTCTATGTGC	0.552000														213			67		0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18845470	18845470	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:18845470C>T	uc004cyq.3	+	18	2308	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	PPEF1_uc004cyp.3_Silent_p.S581S|PPEF1_uc004cyr.3_Silent_p.S547S|PPEF1_uc004cys.3_Silent_p.S609S|PPEF1_uc011mja.2_Silent_p.S544S|PPEF1_uc011mjb.2_Silent_p.S553S	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	609	EF-hand 3.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTGATGATTCCCAAGTCAATA	0.368000														0			46		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22364321C>T	uc002nqs.1	-	2	516	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(2)|p.M66fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000														12			20		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582747	158582747	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158582747C>T	uc001fst.1	-	50	7193	c.6994G>A	c.(6994-6996)Ggc>Agc	p.G2332S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2332	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.K2331R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGACATAGCCCTTCCTGTGG	0.478000														25			21		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021420	132021420	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132021420C>T	uc002tsn.2	+	14	2444	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.P398S|POTEE_uc002tsl.2_Missense_Mutation_p.P380S|POTEE_uc010fmy.1_Missense_Mutation_p.P262S	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	798	Actin-like.						ATP binding										GCGTGTGGCTCCCGAGGAGCA	0.587000														35			71		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963004	63963004	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:63963004T>C	uc001srp.1	-	21	2307	c.2126_splice	c.e21+1	p.K709_splice	DPY19L2_uc010sso.1_Splice_Site_p.K156_splice	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	709					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TAATACTCACTTAGTTCTCAC	0.294000														51			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106877924	106877924	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106877924C>T	uc021ser.1	-	409		c.13001G>A								Parts of antibodies, mostly variable regions.																		TGGGACAGGACCCCTGTGAAC	0.597000														43			6		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723486	58723486	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:58723486C>T	uc001nnh.2	+	6	1038	c.988C>T	c.(988-990)Cta>Tta	p.L330L	GLYATL1_uc001nnf.3_Silent_p.L299L|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.L299L|GLYATL1_uc001nnj.2_Silent_p.L299L	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	299						mitochondrion	glycine N-acyltransferase activity	p.L330L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCCACAGAATCTAGTTCCATT	0.423000														24			24		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774743	24774743	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24774743G>A	uc003xed.4	+	2	1408	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	NEFM_uc011lac.1_Missense_Mutation_p.E459K|NEFM_uc010lue.3_Missense_Mutation_p.E83K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	459	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GATCATAGAGGAAACCAAAGT	0.468000														38			20		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335828	180335828	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180335828T>C	uc003mmp.3	+	1	526	c.292T>C	c.(292-294)Tct>Cct	p.S98P	BTNL8_uc003mmq.3_Missense_Mutation_p.S98P|BTNL8_uc010jll.3_Missense_Mutation_p.S98P|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	98	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCGCATCTCTCTGAGGCT	0.522000														66			55		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155063	55155063	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:55155063A>G	uc003han.4	+	19	3103	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E	PDGFRA_uc003haa.3_Silent_p.E684E	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	924	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTACCAGTGAAGTGTGAGCTC	0.582000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				30			8		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154681051	154681051	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:154681051G>A	uc003wlk.3	+	23	2503	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N	DPP6_uc003wli.3_Missense_Mutation_p.D728N|DPP6_uc003wlm.3_Missense_Mutation_p.D730N|DPP6_uc011kvq.2_Missense_Mutation_p.D685N	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	792					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.D728N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCCACTGCCGATGGTAAGGA	0.478000														20			17		0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93535013	93535013	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:93535013C>T	uc001pem.4	+	8	1616	c.1341C>T	c.(1339-1341)acC>acT	p.T447T		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	447					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGCTGCAACCATTGACAGCT	0.303000														2			10		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22323143	22323143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:22323143G>A	uc002zvs.3	-	6	1021	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Nonsense_Mutation_p.Q196*|TOP3B_uc010gtl.3_Nonsense_Mutation_p.Q196*	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	196					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TATTTAGTCTGAAACCTGGAG	0.498000														63			55		0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10264846	10264847	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:10264846_10264847GG>AA	uc021vdr.1	+	4	669_670	c.618_619GG>AA	c.(616-621)gtggag>gtAAag	p.E207K		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	147					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.E147Q(1)|p.E207Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCCACTAGGTGGAGCGATTTAG	0.406000														29			28		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701319	192701319	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:192701319G>A	uc002utb.3	-	1	963	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	203						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCATCTGAGGAGAGGTCCAC	0.532000														46			20		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193883	60193883	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:60193883C>T	uc001xen.1	-	2	1728	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	RTN1_uc001xem.1_Missense_Mutation_p.E87K	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	507					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCACGCTCCTCGGCCCGGACG	0.726000														8			7		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69096510	69096510	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69096510T>A	uc011bfx.2	-	1	1593	c.1346A>T	c.(1345-1347)aAg>aTg	p.K449M	TMF1_uc003dnn.3_Splice_Site_p.K449_splice	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	449					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TAGAGTTACCTTGCAAACATC	0.363000														291			12		0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11969761	11969761	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:11969761T>G	uc010bux.3	-	13	1987	c.1304A>C	c.(1303-1305)aAa>aCa	p.K435T	GSPT1_uc002dbu.3_Missense_Mutation_p.K572T|GSPT1_uc002dbt.3_Missense_Mutation_p.K573T	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	435					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTCTCCTGATTTTTTGTCTAC	0.373000														36			7		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451857	29451857	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:29451857C>T	uc002rmy.3	-	15	3660	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	903	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCAGGAATGTCCTCCGGTGGC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					30			5		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156552851	156552851	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156552851T>C	uc021pbf.1	+	3	964	c.928T>C	c.(928-930)Tgg>Cgg	p.W310R		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	310							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCAGCGGTGGGAGCAGGG	0.647000														66			4		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174893	112174893	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112174893C>T	uc003kpz.4	+	16	3795	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L	APC_uc011cvt.2_Missense_Mutation_p.S1183L|APC_uc003kpy.4_Missense_Mutation_p.S1201L|APC_uc010jbz.3_Missense_Mutation_p.S918L|APC_uc010jca.3_Missense_Mutation_p.S501L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1201	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAAGAGTTCATCTGGACAA	0.393000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				25			24		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311622	6311622	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:6311622C>T	uc002kmz.4	-	2	163	c.3G>A	c.(1-3)atG>atA	p.M1I	L3MBTL4_uc002kmy.4_Missense_Mutation_p.M1I|L3MBTL4_uc010dkt.3_Missense_Mutation_p.M1I	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	1					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGGCTGTTTCATTGCCACCC	0.493000														102			181		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56063972	56063972	+	RNA	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:56063972A>C	uc010giu.3	-	3		c.711T>G			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AACTCTGAGAAGTTGACTGAA	0.428000														144			29		0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70781240	70781240	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70781240A>C	uc001dex.4	-	3	913	c.587T>G	c.(586-588)cTt>cGt	p.L196R	ANKRD13C_uc009wbk.3_Missense_Mutation_p.L161R	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	196					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCCTCAAAAGAGCTGTAAC	0.294000														61			7		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38187412	38187412	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38187412A>G	uc009vvi.3	-	10	2152	c.2066T>C	c.(2065-2067)cTc>cCc	p.L689P	EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	689	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.Q688Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGAAGCCGAGCCTCTGTGA	0.657000														34			14		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179983099	179983099	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179983099T>C	uc001gnt.3	+	9	1894	c.1511T>C	c.(1510-1512)cTa>cCa	p.L504P	CEP350_uc009wxl.2_Missense_Mutation_p.L503P|CEP350_uc001gnu.3_Missense_Mutation_p.L338P	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATAAAGAAACTAGCTTCATCT	0.373000														42			6		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187532836	187532836	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187532836G>A	uc003izf.3	-	13	9745	c.9557C>T	c.(9556-9558)cCt>cTt	p.P3186L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3186	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGTCCAAAGGTTTTTCTAA	0.423000										HNSCC(5;0.00058)				9			4		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535107	169535107	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169535107G>A	uc003mai.4	+	1	674	c.629G>A	c.(628-630)gGa>gAa	p.G210E	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	210					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGACAATGGAAATTTCCGC	0.483000									Pendred syndrome					10			14		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35616133	35616133	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35616133C>T	uc002nxx.2	-	8	2172	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	LGI4_uc002nxy.1_Silent_p.Q354Q|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	526						extracellular region		p.Q526H(2)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-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)			GCTGGTAGATCTGTGTGGGGC	0.657000														43			40		0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38561815	38561815	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38561815A>C	uc003ooa.4	-	3	1050	c.474T>G	c.(472-474)acT>acG	p.T158T	BTBD9_uc010jwv.3_Silent_p.T99T|BTBD9_uc003ony.4_Silent_p.T90T|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.T158T	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	158	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGCACATACAAGTTAACTTGG	0.408000														262			46		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79658531	79658531	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79658531T>C	uc002kbg.3	+	7	727	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P	HGS_uc010wus.2_Missense_Mutation_p.S198P	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	198					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTCCAAGTACTCCACCATCCC	0.622000														84			5		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778380	31778380	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31778380A>G	uc003nxh.3	-	1	1553	c.1370T>C	c.(1369-1371)cTg>cCg	p.L457P	HSPA1L_uc010jte.3_Missense_Mutation_p.L457P|HSPA1L_uc021yuz.1_Missense_Mutation_p.L457P	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	457					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCGCCCCAGCAGGTTGTTGTC	0.537000														118			7		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16250027	16250027	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:16250027C>T	uc003car.4	+	3	1404	c.929C>T	c.(928-930)cCg>cTg	p.P310L	GALNTL2_uc003caq.4_Missense_Mutation_p.P43L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	310						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GTGGTATCTCCGGTGATAGAT	0.502000														124			38		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160665011	160665011	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160665011T>G	uc002ubb.4	-	32	4845	c.4771A>C	c.(4771-4773)Aat>Cat	p.N1591H	LY75-CD302_uc010fos.3_Missense_Mutation_p.N1591H|LY75-CD302_uc002ubc.4_Missense_Mutation_p.N1591H	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1591	C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATGTTATTATTTTCCCTCATC	0.338000														26			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106518705	106518705	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106518705C>T	uc021ser.1	-	2196		c.39247_splice	c.e2196-1							Parts of antibodies, mostly variable regions.																		CACTGGACACCTGCAAACAAA	0.522000														164			10		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642466	129642466	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:129642466C>T	uc022bnn.1	+	0	776	c.776C>T	c.(775-777)aCc>aTc	p.T259I	ZBTB34_uc004bqm.4_Missense_Mutation_p.T259I	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGGTACCACACCGAGATGGTT	0.572000														52			26		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629419	145629419	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:145629419C>T	uc003ijs.2	+	6	1937	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	419						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACAGCACCAACCAGCCCCCCG	0.542000														18			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106586243	106586243	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106586243G>A	uc021ser.1	-	1811		c.34053C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCCCTTCACGGAGCCTGGATA	0.512000														63			57		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116225098	116225098	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:116225098T>A	uc001efv.1	+	4	1197	c.926T>A	c.(925-927)cTg>cAg	p.L309Q	VANGL1_uc009wgy.1_Missense_Mutation_p.L307Q|VANGL1_uc021ose.1_Missense_Mutation_p.L309Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	309					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATGGCCGGGCTGAAAGTCTAC	0.463000														61			8		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100677500C>T	uc003uxp.1	+	2	2856	c.2803C>T	c.(2803-2805)Ccg>Tcg	p.P935S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517000														233			216		0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350425	20350426	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20350425_20350426CC>TT	uc002wrx.3	+	0	1661_1662	c.1514_1515CC>TT	c.(1513-1515)ccc>cTT	p.P505L		NM_002196	NP_002187	Q01101	INSM1_HUMAN	Homo sapiens insulinoma-associated 1 (INSM1), mRNA.	505					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CTGCAGGTGCCCGTGCGCCCGG	0.658000														27			10		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43323053	43323053	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:43323053C>T	uc002iin.3	+	22	3147	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	FMNL1_uc002iiq.3_Missense_Mutation_p.P561S|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.P310S|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	983	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACCACATCCCCAGGCCTGTT	0.582000														9			64		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929222	49929222	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49929222A>C	uc003cxy.4	-	14	3585	c.3321T>G	c.(3319-3321)aaT>aaG	p.N1107K	MST1R_uc011bdc.2_Missense_Mutation_p.N1058K	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1107	Protein kinase.				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)		ATTGGATTCGATTCTGGGCCT	0.537000														102			25		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770339	38770339	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38770339C>T	uc003ciq.3	-	14	2334	c.2334G>A	c.(2332-2334)aaG>aaA	p.K778K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	778					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)	TTCCGATGATCTTGATGAGTG	0.517000														39			19		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563217	36563217	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36563217C>T	uc001bzv.2	-	1	2072	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	COL8A2_uc001bzw.2_Missense_Mutation_p.E624K	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	689	C1q.|Nonhelical region (NC1).				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)				TGGATGTACTCCGTGGAGTAG	0.647000														29			50		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124204126	124204126	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:124204126C>T	uc003ypv.3	+	2	2578	c.564C>T	c.(562-564)ttC>ttT	p.F188F	FAM83A_uc003ypw.3_Silent_p.F188F|FAM83A_uc003ypx.3_Silent_p.F188F|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Silent_p.F188F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	188										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGGGTGTTCGTTTGTGTGC	0.547000														126			118		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962357	235962357	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:235962357A>G	uc002vvp.3	+	5	3182	c.2789A>G	c.(2788-2790)aAg>aGg	p.K930R	SH3BP4_uc010fym.3_Missense_Mutation_p.K912R|SH3BP4_uc002vvq.3_Missense_Mutation_p.K930R	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	930					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCATCACCAAGCGCTGGAAG	0.577000														131			34		0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49122433	49122433	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49122433G>A	uc002pjq.1	-	1	1	c.-32_splice	c.e1-1		RPL18_uc010xzs.1_Splice_Site|RPL18_uc021uwv.1_Splice_Site|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GGTCCGGAAAGAGAGAACGGG	0.662000														6			6		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201302	166201302	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:166201302A>G	uc002udc.3	+	15	3090	c.2800A>G	c.(2800-2802)Atc>Gtc	p.I934V	SCN2A_uc002udd.3_Missense_Mutation_p.I934V|SCN2A_uc002ude.3_Missense_Mutation_p.I934V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	934					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L933M(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCCTTCCTGATCGTGTTCCG	0.493000														89			43		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062143	31062143	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:31062143A>C	uc002yno.1	-	2	913	c.449T>G	c.(448-450)cTt>cGt	p.L150R	GRIK1_uc002ynn.3_Missense_Mutation_p.L150R|GRIK1_uc011acs.2_Missense_Mutation_p.L150R|GRIK1_uc011act.2_Missense_Mutation_p.L94R|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.L150R	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	150					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATCTGGGTAAAGGTTGATGTA	0.468000														190			30		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060622	46060622	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:46060622C>T	uc003gxb.3	-	5	795	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.E215K(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TACTCAATTTCATTTTTAGGG	0.358000														16			11		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653315	1653315	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1653315C>T	uc002qxa.3	-	16	2301	c.2237G>A	c.(2236-2238)gGc>gAc	p.G746D		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	746					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTACAGGTGCCGTCGTGCGT	0.617000														64			78		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112606	248112606	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248112606C>T	uc001idt.1	+	0	447	c.447C>T	c.(445-447)atC>atT	p.I149I	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGTCTTGGATCATAGGCTCGA	0.443000														88			67		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843325	4843325	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4843325G>A	uc010qyn.2	+	0	710	c.710G>A	c.(709-711)cGa>cAa	p.R237Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATCATTCGATCTGTCCTC	0.493000														37			37		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55249165	55249165	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:55249165C>T	uc003tqk.3	+	19	2709	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	EGFR_uc022adm.1_Silent_p.I821I|EGFR_uc010kzg.2_Silent_p.I776I|EGFR_uc022adn.1_Silent_p.I776I|EGFR_uc011kco.2_Silent_p.I768I|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Silent_p.I56I	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	821	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I821T(2)|p.Q820R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGTGCAGATCGCAAAGGTAA	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				39			23		0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054046	160054046	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160054046G>A	uc001fuy.1	+	1	468	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	76					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCTTCTTCGGCGCCATCTG	0.662000														23			17		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399730	124399730	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:124399730C>T	uc001lgk.1	+	51	6836	c.6730C>T	c.(6730-6732)Cag>Tag	p.Q2244*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.Q2234*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.Q1616*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.Q2244*|DMBT1_uc021qag.1_Nonsense_Mutation_p.Q2234*|DMBT1_uc021qah.1_Nonsense_Mutation_p.Q1616*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.Q2243*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.Q964*|DMBT1_uc009yab.1_Nonsense_Mutation_p.Q947*|DMBT1_uc009yac.1_Nonsense_Mutation_p.Q538*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2244	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAACACCATCCAGGTCGAGGA	0.468000														10			65		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13770902G>A	uc003jfd.2	-	55	9603	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome					48			17		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600542	31600543	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31600542_31600543GG>AA	uc003akb.3	+	6	749_750	c.549_550GG>AA	c.(547-552)ctggtg>ctAAtg	p.V184M	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Missense_Mutation_p.V122M|RNF185_uc003akc.3_Missense_Mutation_p.V122M|RNF185_uc003ake.3_Missense_Mutation_p.V128M	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	184						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TTGTGGCCCTGGTGATCATGTT	0.559000														69			16		0	0	1	0	0
KIAA0090	23065	broad.mit.edu	37	1	19571474	19571474	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:19571474G>A	uc001bbo.3	-	1	189	c.146C>T	c.(145-147)cCt>cTt	p.P49L	KIAA0090_uc001bbp.3_Missense_Mutation_p.P49L|KIAA0090_uc001bbq.3_Missense_Mutation_p.P49L|KIAA0090_uc001bbr.3_Missense_Mutation_p.P49L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	49						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CTTGGATCCAGGGGAAAATTC	0.448000														53			64		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809550	48809550	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48809550T>C	uc002rwp.2	+	1	1892	c.1778T>C	c.(1777-1779)cTg>cCg	p.L593P	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.L593P|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.L593P|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.L593P|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.L593P	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	593					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGAAGTCTCTGAAAGCTAAA	0.473000														58			7		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	60001	60001	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:60001G>A	uc003fzv.1	+	2	337	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF718_uc003fzt.4_Missense_Mutation_p.E61K|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAAATAAAAGAGCCCTGCAA	0.448000														133			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087701	92087701	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:92087701A>T	uc001pdj.4	+	0	2440	c.2423A>T	c.(2422-2424)aAt>aTt	p.N808I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	808	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTTAGGTAATCCACAGAAA	0.403000										TCGA Ovarian(4;0.039)				4			31		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5348782	5348782	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5348782T>G	uc003soi.4	-	27	8955	c.8606A>C	c.(8605-8607)aAg>aCg	p.K2869T		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2869	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGGAACTGCTTGCCCGGGCT	0.677000														32			4		0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155126596	155126596	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:155126596C>T	uc003qqa.3	+	9	1189	c.957C>T	c.(955-957)ctC>ctT	p.L319L	SCAF8_uc011efj.2_Silent_p.L385L|SCAF8_uc011efk.2_Silent_p.L364L|SCAF8_uc003qpz.3_Silent_p.L319L|SCAF8_uc010kji.3_Silent_p.L340L	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	319	Gln-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	p.L319L(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GACAGCAGCTCTTGGAGCAGC	0.373000														2			27		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670659	25670659	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25670659A>T	uc001upy.3	+	0	384	c.323A>T	c.(322-324)aAg>aTg	p.K108M		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	108	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AATCTGGATAAGTCCATTAAT	0.398000														58			16		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151499556	151499556	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151499556T>C	uc009wmw.3	+	9	2013	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	617	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTGGAGATACTCGCCAGG	0.537000														82			4		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57043156	57043156	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:57043156T>C	uc002iwx.3	+	2	812	c.685T>C	c.(685-687)Tat>Cat	p.Y229H	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	238					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACCCCAGCTTTATTATGAGAC	0.463000														146			9		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764132	92764132	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92764132C>T	uc003umh.1	-	4	2369	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	SAMD9L_uc003umj.1_Missense_Mutation_p.G385R|SAMD9L_uc003umi.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfb.1_Missense_Mutation_p.G385R|SAMD9L_uc003umk.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfc.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfd.1_Missense_Mutation_p.G385R|SAMD9L_uc022ahh.1_Missense_Mutation_p.G385R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	385										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCTTCATTCCATACTCTTCT	0.393000														8			143		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470210	161470210	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:161470210A>G	uc003qtn.3	+	2	1048	c.906A>G	c.(904-906)aaA>aaG	p.K302K	MAP3K4_uc010kkc.1_Silent_p.K302K|MAP3K4_uc003qto.3_Silent_p.K302K|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	302					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACTTTCAAAGTCGACTATG	0.433000														25			22		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267738	31267738	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31267738G>A	uc003jhe.2	+	1	518	c.158G>A	c.(157-159)aGg>aAg	p.R53K	CDH6_uc003jhd.2_Missense_Mutation_p.R53K	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	53					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTTCAAAAAGGAGCTGGATG	0.458000														41			106		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539494	55539494	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55539494G>A	uc003xsd.1	+	3	3200	c.3052G>A	c.(3052-3054)Gtt>Att	p.V1018I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1018					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTTATTTGGTTCCCCTGCA	0.373000														173			54		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538796	1538796	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1538796A>G	uc002fsz.1	-	10	1799	c.1749T>C	c.(1747-1749)gcT>gcC	p.A583A	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Silent_p.A497A	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	583	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTTGGCCCGAGCTAGGCTGG	0.677000														130			23		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24445651	24445651	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24445651C>T	uc002zzi.1	+	6	752	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	CABIN1_uc021wnc.1_Missense_Mutation_p.R209W|CABIN1_uc002zzj.1_Missense_Mutation_p.R209W|CABIN1_uc002zzl.2_Missense_Mutation_p.R209W|CABIN1_uc010guk.1_Missense_Mutation_p.R164W|CABIN1_uc002zzk.2_Missense_Mutation_p.R164W	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	209					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTTGTCTCCGGAAGGACTC	0.512000														56			47		0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757661	75757661	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:75757661T>G	uc003yal.3	+	4	749	c.570T>G	c.(568-570)acT>acG	p.T190T	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Silent_p.T190T	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	190						extracellular region	peptidase inhibitor activity	p.H189Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAATTCATACTTGCCAAAACA	0.428000														72			8		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131565067	131565067	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:131565067C>T	uc001lkh.2	+	4	549	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	175										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CATCCTCATCCCGTGCCACAG	0.632000								Direct reversal of damage						2			12		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7804738	7804738	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:7804738A>C	uc003jdz.1	+	21	2883	c.2816A>C	c.(2815-2817)aAg>aCg	p.K939T	ADCY2_uc011cmo.1_Missense_Mutation_p.K759T|ADCY2_uc010itm.1_Missense_Mutation_p.K135T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	939					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAAAGATTAAGACCATTGGC	0.517000														55			20		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701926	181701926	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181701926G>A	uc009wxt.3	+	19	2899	c.2704G>A	c.(2704-2706)Gga>Aga	p.G902R	CACNA1E_uc001gow.3_Missense_Mutation_p.G902R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G883R|CACNA1E_uc001gox.1_Missense_Mutation_p.G128R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	902					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G901R(1)|p.G902E(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCAGGGGGAGGAGAGGCTGT	0.662000														64			51		0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	T	T	rs150366522		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248512475C>T	uc010pzl.2	+	0	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000														40			23		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511004	2511004	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2511004A>G	uc002cqh.3	+	3	415	c.384A>G	c.(382-384)caA>caG	p.Q128Q	C16orf59_uc002cqg.2_5'UTR|C16orf59_uc002cqi.3_5'UTR|C16orf59_uc010uwb.2_5'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	128										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCCAGGCCAAGCTGGTGGCC	0.657000														52			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1154280	1154280	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1154280C>T	uc021qbr.1	+	1	173	c.126C>T	c.(124-126)ctC>ctT	p.L42L				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	47					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCTGCCCTCTCTCCTATCG	0.672000														15			11		0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102713377	102713377	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:102713377T>G	uc004bal.4	+	3	361	c.225T>G	c.(223-225)ctT>ctG	p.L75L	STX17_uc004bak.3_Silent_p.L75L|STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	75					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTGAGAAACTTTGTTTGAAAG	0.353000														51			7		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42273324	42273324	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42273324C>T	uc003bbi.3	+	7	1647	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	493					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGTGCCTCTCCTTTAACCCC	0.587000														60			47		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754338	32754338	+	Missense_Mutation	SNP	C	T	T	rs138674931		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32754338C>T	uc003amj.3	+	0	485	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	RFPL3_uc010gwn.3_Missense_Mutation_p.R65W	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	94							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CAGGCCCAATCGGCAGCTAGA	0.517000														54			51		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835749	12835749	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12835749T>C	uc001aui.3	+	1	378	c.351T>C	c.(349-351)tcT>tcC	p.S117S		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	117								p.S117S(2)		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)		GCATATGGTCTGGAGCTTCTG	0.542000														361			14		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999836	124999836	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:124999836G>A	uc010flu.3	+	2	611	c.247G>A	c.(247-249)Gga>Aga	p.G83R	CNTNAP5_uc002tno.3_Missense_Mutation_p.G83R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	83	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G83A(1)		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)		GATGGACCTGGGAAACAGAGT	0.522000														4			5		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528866	77528866	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:77528866A>C	uc001dhi.3	+	4	1161	c.986A>C	c.(985-987)cAt>cCt	p.H329P	ST6GALNAC5_uc010ori.2_3'UTR|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript|ST6GALNAC5_uc001dhj.3_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	329					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCTATAAATCATCCTGAGAAT	0.433000														48			15		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585795	42585795	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42585795T>G	uc003xpi.1	+	3	436	c.308T>G	c.(307-309)aTt>aGt	p.I103S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	103					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCCATTCCATTAAAGTTCCA	0.353000														43			8		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76075523	76075523	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76075523A>G	uc002jud.2	+	10	3858	c.3258A>G	c.(3256-3258)caA>caG	p.Q1086Q	TNRC6C_uc002juf.2_Silent_p.Q1083Q	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1086					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGCAGCACAAGCCAGGACCA	0.532000														62			20		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331180	206331180	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206331180C>T	uc001hdu.3	+	8	1304	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	CTSE_uc001hdv.3_Silent_p.S348S|CTSE_uc010prs.2_Silent_p.S273S	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	401					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCCAGCAGTCCCCTAAGGAGG	0.522000														66			35		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056480	9056480	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9056480C>T	uc002mkp.3	-	2	31170	c.30966G>A	c.(30964-30966)gaG>gaA	p.E10322E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10324	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGCAGGCTCTCTGCAATGG	0.527000														54			27		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070064	4070064	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:4070064A>G	uc003mvx.3	-	6	799	c.393T>C	c.(391-393)gcT>gcC	p.A131A	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Silent_p.A68A	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	131																	TATCAACTGAAGCAATTGTTA	0.393000														43			14		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8717087	8717087	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8717087T>C	uc001mgt.3	-	18	3488	c.3302A>G	c.(3301-3303)gAg>gGg	p.E1101G	ST5_uc009yfr.3_Missense_Mutation_p.E681G|ST5_uc001mgu.3_Missense_Mutation_p.E681G|ST5_uc001mgv.3_Missense_Mutation_p.E1101G|ST5_uc010rbp.2_Missense_Mutation_p.E614G	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	1101					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CACTCGCTGCTCAAAAAGGCC	0.493000														79			17		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294300	110294300	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110294300C>T	uc001dyr.2	-	15	1764	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	EPS8L3_uc001dys.2_Silent_p.G483G|EPS8L3_uc001dyq.2_Silent_p.G514G|EPS8L3_uc009wfm.2_Silent_p.G450G|EPS8L3_uc009wfn.2_Silent_p.G458G	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	513						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGCCCTGGGTCCCAGGGGTCC	0.627000														51			41		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779216	52779216	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:52779216T>A	uc001sah.1	-	0	202	c.154A>T	c.(154-156)Agt>Tgt	p.S52C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	52	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACACTCCGACTACCAAAGCTG	0.577000														27			3		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523987	24523987	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:24523987C>T	uc002wtw.1	+	1	887	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	85					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TCAGTGGAGTCCCGCTACCGG	0.672000														35			48		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34026782	34026782	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34026782G>A	uc003oir.4	-	3	1359	c.996C>T	c.(994-996)gtC>gtT	p.V332V	GRM4_uc011dsn.2_Silent_p.V332V|GRM4_uc010jvh.3_Silent_p.V332V|GRM4_uc010jvi.3_Silent_p.V24V|GRM4_uc003oio.3_Silent_p.V24V|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.V192V|GRM4_uc003oiq.3_Silent_p.V199V|GRM4_uc011dsm.2_Silent_p.V163V	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	332					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGAGGATCGTGACAGCACCCT	0.627000														13			14		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154076676	154076676	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154076676A>G	uc001fdw.3	-	12	1703	c.1631T>C	c.(1630-1632)cTg>cCg	p.L544P	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.L544P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	544						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTTCAGTTTCAGGACATGTAT	0.373000														127			7		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58559714	58559714	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:58559714T>G	uc002ybe.3	+	5	873	c.562T>G	c.(562-564)Tta>Gta	p.L188V	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	188	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTTTCAGATGTTAGCAGTCGA	0.343000														53			13		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4189053	4189053	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4189053C>T	uc003smx.3	+	29	4722	c.4583C>T	c.(4582-4584)tCc>tTc	p.S1528F	SDK1_uc010kso.3_Missense_Mutation_p.S804F|SDK1_uc003smy.3_Missense_Mutation_p.S15F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1528	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGACCTACTCCTCGTCCATC	0.682000														9			11		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637924	70637924	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70637924G>A	uc003pfc.1	+	5	507	c.390_splice	c.e5+1	p.Q130_splice	COL19A1_uc010kam.2_Splice_Site_p.Q26_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	130	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATATTCCACAGGTAAAGTACC	0.413000														1			37		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419243	123419243	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123419243T>G	uc003ego.3	-	17	3354	c.3072A>C	c.(3070-3072)aaA>aaC	p.K1024N	MYLK_uc011bjw.2_Missense_Mutation_p.K1024N|MYLK_uc003egp.3_Missense_Mutation_p.K955N|MYLK_uc003egq.3_Missense_Mutation_p.K1024N|MYLK_uc003egr.3_Missense_Mutation_p.K955N|MYLK_uc003egs.3_Missense_Mutation_p.K848N|MYLK_uc003egt.3_Missense_Mutation_p.K215N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1024	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCCCACGGGTTTCAAGGGCC	0.602000														241			11		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412084	51412084	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:51412084G>A	uc001nhi.2	-	0	365	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCCCACCAAAGAAATGGTCTA	0.448000														64			20		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13283704	13283704	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:13283704C>T	uc003nah.2	+	12	1933	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	PHACTR1_uc010jpc.3_Silent_p.I520I|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron|LOC100130357_uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	520						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGATCCTCATCCGCTTCAGTG	0.582000														94			63		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966928	4966928	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:4966928C>T	uc004fqo.3	+	1	2043	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S	PCDH11Y_uc010nwg.1_Missense_Mutation_p.P426S|PCDH11Y_uc004fql.1_Missense_Mutation_p.P426S|PCDH11Y_uc004fqm.1_Missense_Mutation_p.P426S|PCDH11Y_uc004fqn.1_Missense_Mutation_p.P437S|PCDH11Y_uc004fqp.1_Missense_Mutation_p.P208S	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	437	Cadherin 4.				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						TCATGAAATTCCTTTCAGATT	0.403000														2			80		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552291	41552291	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41552291T>G	uc003xok.3	-	27	3230	c.3146A>C	c.(3145-3147)aAg>aCg	p.K1049T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.K365T|ANK1_uc003xoi.3_Missense_Mutation_p.K1049T|ANK1_uc003xoj.3_Missense_Mutation_p.K1049T|ANK1_uc003xol.3_Missense_Mutation_p.K1049T|ANK1_uc003xom.3_Missense_Mutation_p.K1090T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1049					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACACCCTCTTCTTCTCTAG	0.612000														53			5		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318786	21318786	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21318786C>T	uc021tss.1	+	2	502	c.132C>T	c.(130-132)aaC>aaT	p.N44N	KCNJ18_uc002gyv.1_Silent_p.N44N|KCNJ18_uc021tst.1_Silent_p.N44N	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	44						integral to membrane	inward rectifier potassium channel activity										GGTGCCGCAACCGCTTCGTCA	0.607000														38			5		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206231126	206231126	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206231126A>G	uc001hds.2	+	1	1417	c.1259A>G	c.(1258-1260)gAg>gGg	p.E420G		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	420					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCACCGCTGAGACCATCATC	0.607000														38			8		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189454	167189454	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167189454C>T	uc003fes.1	-	1	270	c.199G>A	c.(199-201)Gag>Aag	p.E67K	SERPINI2_uc003fer.1_Missense_Mutation_p.E57K|SERPINI2_uc003fet.1_Missense_Mutation_p.E57K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	57					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGTACCATCTCAAGAACCAAA	0.383000														127			12		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884860	23884860	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23884860C>G	uc001wjx.3	-	34	5241	c.5135G>C	c.(5134-5136)cGg>cCg	p.R1712P		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1712			R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCTGCACCCGCTCACTAGT	0.612000														55			14		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476909	120476909	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:120476909G>A	uc004bjz.3	+	2	2794	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	TLR4_uc004bkb.3_Missense_Mutation_p.E635K|TLR4_uc004bka.3_Missense_Mutation_p.E795K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	835					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAATTGGCAGGAAGCAACATC	0.468000														36			60		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408211	215408211	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:215408211A>C	uc001hkq.3	+	6	1173	c.1004A>C	c.(1003-1005)aAc>aCc	p.N335T	KCNK2_uc001hko.3_Missense_Mutation_p.N331T|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.N320T	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	335							outward rectifier potassium channel activity	p.E335E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGGACAGCCAACGTCACAGCC	0.493000														103			4		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905568	23905568	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23905568T>C	uc001uon.2	-	9	13036	c.12447A>G	c.(12445-12447)tcA>tcG	p.S4149S	SACS_uc001uoo.2_Silent_p.S4002S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4149					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTCCAGTTTTGATGGCTCCG	0.393000														122			9		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000803	11000803	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:11000803G>T	uc002daj.4	+	10	1590	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	CIITA_uc002dai.4_Missense_Mutation_p.S485I|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.S485I|CIITA_uc002dah.2_Missense_Mutation_p.S437I|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	485	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGGTTTTCAGCCACATCTTG	0.617000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									70			61		5.82218e-30	5.87201e-30	1	1	0
FBXO38	81545	broad.mit.edu	37	5	147806819	147806819	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147806819C>T	uc003lpf.1	+	14	2082	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	FBXO38_uc003lpg.1_Silent_p.S654S|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	654						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACAACTCCCATCAGATGG	0.463000														5			8		0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882357	43882357	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:43882357T>G	uc009xmh.1	-	2	1463	c.976A>C	c.(976-978)Aga>Cga	p.R326R	HNRNPF_uc001jar.2_Silent_p.R326R|HNRNPF_uc001jas.2_Silent_p.R326R|HNRNPF_uc001jat.2_Silent_p.R326R|HNRNPF_uc001jav.2_Silent_p.R326R|HNRNPF_uc001jau.2_Silent_p.R326R|HNRNPF_uc021ppg.1_Silent_p.R326R|HNRNPF_uc010qfa.1_Silent_p.S13S	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	326	RRM 3.	Interaction with RNA.			regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGTCACTCTTCCATCTGGG	0.483000														46			6		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876569	45876569	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45876569C>T	uc021wjs.1	+	0	42	c.42C>T	c.(40-42)gtC>gtT	p.V14V	LRRC3_uc002zfa.3_Silent_p.V14V	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	14						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCCTGCTGGTCTCCACCCGGG	0.706000														57			38		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9068638	9068638	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9068638G>A	uc003brf.1	-	12	2257	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SRGAP3_uc003brg.1_Silent_p.I503I|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	527	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGATGTAACGGATGCAGCTCT	0.423000			T	RAF1	pilocytic astrocytoma									24			51		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	A	A	rs142743963	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4869859G>A	uc010qyo.2	-	0	580	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000														81			56		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773781	151773781	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151773781C>T	uc001ezf.1	-	1	1590	c.1400G>A	c.(1399-1401)gGg>gAg	p.G467E	LINGO4_uc021oyu.1_Missense_Mutation_p.G467E	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	467	Ig-like C2-type.					integral to membrane		p.D466G(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCAGTGTCCCATCCTCTAG	0.607000														110			100		0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1579144	1579144	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1579144T>G	uc001lts.2	-	5	829	c.701A>C	c.(700-702)aAa>aCa	p.K234T	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	234	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.D233G(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GAGCTTGGCTTTATCTGGGCA	0.617000														53			12		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134994973	134994973	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:134994973T>A	uc004ezh.3	+	19	2799	c.2632T>A	c.(2632-2634)Tta>Ata	p.L878I	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Missense_Mutation_p.L502I	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	878										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTTGTCTTAATTCAGCA	0.358000														7			8		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528704	65528704	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:65528704G>A	uc003xvj.2	-	2	598	c.394C>T	c.(394-396)Cat>Tat	p.H132Y		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	132					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTCATGTCATGATTTTTTTGC	0.318000														24			15		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514759	44514759	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44514759C>T	uc002oyb.1	+	4	819	c.568C>T	c.(568-570)Cac>Tac	p.H190Y		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	190					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)				CCAGAGAGTTCACTTGAGAGA	0.463000														60			66		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45130909	45130909	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45130909G>A	uc003bfd.3	+	6	835	c.558G>A	c.(556-558)ggG>ggA	p.G186G	PRR5-ARHGAP8_uc003bew.2_Silent_p.G177G|PRR5-ARHGAP8_uc003bex.2_Silent_p.G91G|PRR5-ARHGAP8_uc010gzt.1_Silent_p.G209G|PRR5-ARHGAP8_uc003bey.1_Silent_p.G177G|PRR5-ARHGAP8_uc003bez.1_Silent_p.G91G|PRR5-ARHGAP8_uc011aqi.2_Intron|PRR5-ARHGAP8_uc011aqj.2_Intron|PRR5-ARHGAP8_uc003bfb.2_Silent_p.G186G|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5-ARHGAP8_uc003bfh.1_Silent_p.G85G	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TCCTGCAGGGGGTACATGAGT	0.642000														30			21		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937147	43937147	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:43937147T>C	uc010yny.2	+	11	2068	c.1985T>C	c.(1984-1986)gTg>gCg	p.V662A	PLEKHH2_uc002rte.3_Missense_Mutation_p.V662A|PLEKHH2_uc002rtf.3_Missense_Mutation_p.V661A	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	662	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTCCTCTGTGGCTTCTGAA	0.463000														106			4		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873692	189873692	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:189873692C>T	uc002uqj.1	+	47	3685	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1190	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGACCTCCTGGTGCCCC	0.557000														19			34		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961249	99961249	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99961249C>T	uc011lgx.2	+	2	853	c.432C>T	c.(430-432)ttC>ttT	p.F144F	OSR2_uc010mbn.2_Silent_p.F23F|OSR2_uc003yir.3_Silent_p.F23F|OSR2_uc003yiq.3_Silent_p.F23F	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	23					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ATTACTCCTTCCTGCAGGCCG	0.647000														65			15		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936884	21936884	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:21936884C>T	uc010tzj.1	-	0		c.3856G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CATAAGCCTTCCGTGTAACCA	0.507000														152			38		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231409	7231409	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:7231409G>A	uc010wzk.2	+	0	273	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	91										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAGGTGGGGAAACTGACCC	0.577000														47			49		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113321967	113321967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113321967C>T	uc002thw.2	+	9	2217	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	POLR1B_uc010fkn.2_Missense_Mutation_p.P490L|POLR1B_uc002thx.2_Missense_Mutation_p.P407L|POLR1B_uc010fko.2_Missense_Mutation_p.P395S|POLR1B_uc010fkp.2_5'UTR|POLR1B_uc002thy.2_Missense_Mutation_p.P407L|POLR1B_uc010yxo.1_Missense_Mutation_p.P323L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	546					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GATGGAGCTCCCCACCGATCA	0.517000														44			15		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670588	186670588	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:186670588G>A	uc002upl.3	+	16	16822	c.16822G>A	c.(16822-16824)Gaa>Aaa	p.E5608K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAATAAAAAGGAAGTGGATGA	0.348000														29			39		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113649	56113649	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56113649G>A	uc010rjg.2	+	0	135	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGGTCACAGTGATAGGCAATC	0.453000										HNSCC(65;0.19)				48			45		0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196054289	196054289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196054289C>T	uc010iad.2	-	1	331	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.G58E|TM4SF19_uc021xjs.1_Missense_Mutation_p.G58E|TM4SF19_uc011btv.2_Missense_Mutation_p.G58E	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGCCCAGTTCCCAGCATGGC	0.622000														72			63		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467099	10467099	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:10467099G>A	uc003wtc.3	-	3	4738	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1503					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCACCGAAGAGCTCCTCTCTG	0.647000														80			26		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47547126	47547126	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:47547126T>C	uc003oyw.3	+	8	1365	c.909T>C	c.(907-909)acT>acC	p.T303T		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	303	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTAGGAGACTGGAGAAGCTG	0.383000														38			11		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967040	46967040	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:46967040C>T	uc003gxg.3	-	7	2064	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	GABRA4_uc021xnz.1_Missense_Mutation_p.E342K|GABRA4_uc021xoa.1_Missense_Mutation_p.E291K	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	361					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGGGAACTTCCTGAGGGGGC	0.443000														26			43		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63042954	63042954	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:63042954A>G	uc001daq.3	-	17	2125	c.2091T>C	c.(2089-2091)gcT>gcC	p.A697A	DOCK7_uc001dan.3_Silent_p.A589A|DOCK7_uc001dao.3_Silent_p.A589A|DOCK7_uc001dap.3_Silent_p.A697A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	697	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTACAGAATAAGCCTGTGGTG	0.398000														39			8		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437535	125437535	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125437535C>T	uc011lzb.2	+	0	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATGGGAAATCTGCTCATCAT	0.428000														86			24		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65006922	65006922	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:65006922A>G	uc002eoi.3	-	8	1709	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.T425T|CDH11_uc010vin.2_Silent_p.T299T	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTCGAGGTCAGTGTGACGAT	0.383000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				17			12		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62334927	62334927	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62334927T>C	uc001ntm.1	-	5	742	c.596A>G	c.(595-597)cAg>cGg	p.Q199R	EEF1G_uc010rlw.1_Missense_Mutation_p.Q249R	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	199	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCCCGGAACTGGGGCTGGTT	0.542000														14			4		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314056	54314056	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54314056G>A	uc002qcj.4	-	2	1077	c.857C>T	c.(856-858)cCc>cTc	p.P286L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P286L|NLRP12_uc002qci.4_Missense_Mutation_p.P286L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P286L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	286	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCGCTCGGGAACTCGGAT	0.602000														20			34		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145620651	145620651	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145620651T>G	uc003zcj.3	-	27	3171	c.3096_splice	c.e27+1	p.K1032_splice	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Splice_Site	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1032					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGGGCAGACCTTAGACTCCAC	0.637000														80			14		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846120	89846120	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89846120T>C	uc001dnf.2	+	5	1075	c.801T>C	c.(799-801)atT>atC	p.I267I	GBP6_uc010ost.1_Silent_p.I137I	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	267							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAACAAACATTTTCTGTTCTT	0.443000														34			7		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509528	71509528	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71509528A>C	uc011caw.1	+	8	2666	c.2385A>C	c.(2383-2385)aaA>aaC	p.K795N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	795					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTACAAAAAGCCCCAGCTA	0.473000														56			12		0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42128035	42128035	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42128035G>A	uc010xwd.1	-	2	642	c.531C>T	c.(529-531)tcC>tcT	p.S177S	CEACAM4_uc002orh.1_Silent_p.S177S	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	177						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TTCCAGTCCTGGAGAGAAGCA	0.662000														24			21		0	0	1	0	0
CAPZA1	829	broad.mit.edu	37	1	113197147	113197147	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:113197147A>C	uc001ecj.1	+	4	672	c.280A>C	c.(280-282)Att>Ctt	p.I94L		NM_006135	NP_006126	P52907	CAZA1_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 1 (CAPZA1), mRNA.	94					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|WASH complex|cytosol|extracellular region	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAACAAAATTTCCTTTAA	0.398000														92			31		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102059	29102059	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:29102059G>A	uc002kwu.4	+	5	725	c.537G>A	c.(535-537)atG>atA	p.M179I		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	179	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTCTTGTGATGAAAATCAATG	0.343000														16			10		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70494042	70494042	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70494042G>A	uc001dep.3	+	15	1899	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	623						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCAAAGGAGATTACAGTGG	0.383000														21			12		0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152488014	152488014	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152488014G>T	uc021oyy.1	+	0	155	c.155G>T	c.(154-156)tGc>tTc	p.C52F	CRCT1_uc001ezz.3_Missense_Mutation_p.C52F	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA.	52	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGGCTGCTGCGGCTCC	0.751000														14			6		0.0215528	0.0215597	1	1	0
DSP	1832	broad.mit.edu	37	6	7584030	7584030	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7584030A>C	uc003mxp.1	+	23	6814	c.6535A>C	c.(6535-6537)Aag>Cag	p.K2179Q	DSP_uc003mxq.1_Missense_Mutation_p.K1580Q|DSP_uc021yle.1_Missense_Mutation_p.K1736Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2179	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTCACCAAAAAGAAGGTCAG	0.483000														57			20		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505004	70505004	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70505004T>G	uc001dep.3	+	18	3413	c.3383T>G	c.(3382-3384)tTt>tGt	p.F1128C	LRRC7_uc009wbg.3_Missense_Mutation_p.F412C|LRRC7_uc001deq.3_Missense_Mutation_p.F369C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1128						centrosome|focal adhesion|nucleolus	protein binding	p.M1127I(1)|p.F1128L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGGCCATGTTTAGAAGGGTC	0.592000														175			7		0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114256951	114256951	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:114256951G>A	uc002tjw.4	+	0	291	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	40					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						agacgaggtggaagacgagga	0.657000														18			28		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651488	15651489	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15651488_15651489GG>TA	uc002nbh.4	+	7	1066_1067	c.899_900GG>TA	c.(898-900)ggg>gTA	p.G300V		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	300						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.G300W(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCCAAGCAGGGGAAGACCTTGG	0.634000														62			17		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133783817	133783817	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:133783817C>T	uc011ecs.2	+	8	955	c.639C>T	c.(637-639)tcC>tcT	p.S213S	EYA4_uc011ecq.2_Silent_p.S159S|EYA4_uc011ecr.2_Silent_p.S159S|EYA4_uc003qec.4_Silent_p.S213S|EYA4_uc003qed.4_Silent_p.S213S|EYA4_uc003qee.4_Silent_p.S190S|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	213					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAACTCAGTCCCCATTACAGA	0.458000														4			31		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485165	35485165	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35485165A>C	uc001byh.3	-	3	445	c.217T>G	c.(217-219)Tca>Gca	p.S73A	ZMYM6_uc001byf.1_Missense_Mutation_p.S73A|ZMYM6_uc010oht.2_5'UTR|ZMYM6_uc009vup.3_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.S73A|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byi.2_Missense_Mutation_p.S73A|ZMYM6_uc001byj.2_Missense_Mutation_p.S73A|ZMYM6_uc001byk.2_Missense_Mutation_p.S73A	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	73					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGGCCAGATGATGCAAAAGAA	0.373000														50			12		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419242	55419242	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55419242G>A	uc001nhs.1	+	0	863	c.863G>A	c.(862-864)aGa>aAa	p.R288K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATACACTGAGAAATGCAGAA	0.378000														63			37		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908510	24908510	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24908510A>G	uc001isb.2	-	8	2801	c.2314T>C	c.(2314-2316)Tgg>Cgg	p.W772R	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.W772R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.W607R|ARHGAP21_uc001isc.1_Missense_Mutation_p.W762R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	771					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGGGCAGCCAGCAGGTAGTG	0.527000														121			7		0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368363	111368363	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111368363T>C	uc003puq.3	-	0	395	c.260A>G	c.(259-261)aAg>aGg	p.K87R						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		CTTCAGTTTCTTAAAATCTGG	0.498000														15			4		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807058	6807058	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6807058T>G	uc001mer.2	+	0	811	c.790T>G	c.(790-792)Tcc>Gcc	p.S264A		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGCCCAGTTCCTTCCACAG	0.488000														42			30		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526348	176526348	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176526348G>A	uc001gkz.3	+	1	2054	c.890G>A	c.(889-891)gGa>gAa	p.G297E	PAPPA2_uc001gky.1_Missense_Mutation_p.G297E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	297					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						AAACCGGAGGGAGGACAGAAC	0.567000														7			5		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11470337	11470337	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:11470337C>T	uc001mjo.2	-	1	803	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	128						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGCAGGCGGTCGCTGAGGTAG	0.652000														27			18		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819022	8819022	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:8819022A>T	uc002knr.2	+	12	3063	c.2921A>T	c.(2920-2922)aAc>aTc	p.N974I	SOGA2_uc002knq.2_Missense_Mutation_p.N933I|SOGA2_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1284																	AAAGACGGCAACGTTCGCCCC	0.522000														139			23		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700324	136700324	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:136700324G>A	uc003vtf.1	+	3	1335	c.712G>A	c.(712-714)Gga>Aga	p.G238R	CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	238					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTGGTACAAGGAAGGATAGT	0.507000														14			13		0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91548307	91548307	+	Missense_Mutation	SNP	A	C	C	rs149121639	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91548307A>C	uc002bqp.1	-	14	1502	c.1148T>G	c.(1147-1149)aTt>aGt	p.I383S	VPS33B_uc002bqq.1_Missense_Mutation_p.I292S|VPS33B_uc010uqu.1_Missense_Mutation_p.I356S	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	383					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTGTTCCTCAATGTAGCTGGT	0.562000														58			4		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148875975	148875975	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148875975A>T	uc011kum.2	+	6	1167	c.1026A>T	c.(1024-1026)ccA>ccT	p.P342P	ZNF398_uc011kul.2_Silent_p.P166P|ZNF398_uc003wfl.3_Silent_p.P337P	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	337					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCCCACCTCCAGTTGGCGAGC	0.542000														213			20		0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57675439	57675439	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:57675439T>G	uc001xct.3	-	17	2266	c.2015A>C	c.(2014-2016)aAg>aCg	p.K672T	EXOC5_uc001xcs.3_Missense_Mutation_p.K351T|EXOC5_uc010trg.2_Missense_Mutation_p.K617T|EXOC5_uc010trh.2_Missense_Mutation_p.K607T	NM_006544	NP_006535	O00471	EXOC5_HUMAN	Homo sapiens exocyst complex component 5 (EXOC5), mRNA.	672					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.D671Y(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GCAGACTTGCTTTAAATTATC	0.398000														54			22		0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33238037	33238037	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33238037T>G	uc003odm.1	-	1	324	c.114A>C	c.(112-114)gaA>gaC	p.E38D	VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_5'UTR|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	38					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GTTGCAGTGGTTCCTGGAGCC	0.483000														109			33		0	0	1	0	0
FIBP	9158	broad.mit.edu	37	11	65651939	65651939	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65651939C>T	uc001ogd.3	-	8	1070	c.949G>A	c.(949-951)Gac>Aac	p.D317N	FIBP_uc001oge.3_Missense_Mutation_p.D310N	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	317					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GGCCAGTGGTCGGAGCGGCAG	0.587000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			21		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34534414	34534414	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:34534414G>A	uc001zhw.3	-	15	2215	c.2051C>T	c.(2050-2052)tCt>tTt	p.S684F	SLC12A6_uc001zhv.3_Missense_Mutation_p.S633F|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.S669F|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.S625F|SLC12A6_uc001zib.3_Missense_Mutation_p.S675F|SLC12A6_uc001zic.3_Missense_Mutation_p.S684F|SLC12A6_uc010bau.3_Missense_Mutation_p.S684F|SLC12A6_uc001zid.3_Missense_Mutation_p.S625F|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.S496F	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	684					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCCCATGAAAGAAAGGGCCCT	0.363000														23			18		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999688	160999688	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:160999688A>C	uc003qtl.3	-	27	4458	c.4338T>G	c.(4336-4338)ccT>ccG	p.P1446P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3954	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTAACACCAAGGGCGAATCT	0.517000														39			9		0	0	1	0	0
ALG1L	200810	broad.mit.edu	37	3	125650488	125650488	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:125650488A>C	uc021xdh.1	-	4	548	c.328T>G	c.(328-330)Ttc>Gtc	p.F110V	ALG1L_uc003eig.2_Missense_Mutation_p.F90V	NM_001195223	NP_001182152	Q6GMV1	ALG1L_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA.	90							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						TACCACTTGAAGTTCACGGCA	0.582000														60			15		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967671	4967671	+	Silent	SNP	G	A	A	rs147755934		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4967671G>A	uc010qys.2	-	0	660	c.660C>T	c.(658-660)acC>acT	p.T220T		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T220S(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGGATCAGGGTGTAAGACA	0.423000														45			4		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201534361	201534361	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201534361A>T	uc002uvx.3	+	33	3963	c.3862A>T	c.(3862-3864)Agt>Tgt	p.S1288C	AOX1_uc010zhf.2_Missense_Mutation_p.S844C|AOX1_uc010fsu.3_Missense_Mutation_p.S654C	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1288					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGACGCAGTGAGTGCAGCACG	0.522000														192			16		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19710106	19710106	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19710106T>C	uc002nmy.3	-	1	475	c.188A>G	c.(187-189)aAg>aGg	p.K63R	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	63							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCTACCTGTCTTTTCCTTGAT	0.547000														23			12		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724893	158724893	+	Silent	SNP	C	T	T	rs141924378	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158724893C>T	uc001fsw.1	+	0	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCCTCTCCTTCCTGGAGATCT	0.493000														87			65		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639145	32639145	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:32639145G>A	uc002yow.1	-	4	616	c.144C>T	c.(142-144)atC>atT	p.I48I	TIAM1_uc011adk.1_Silent_p.I48I|TIAM1_uc011adl.1_Silent_p.I48I|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	48					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTTCCTGTGGATCACCTTCC	0.637000														33			32		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46334010	46334010	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46334010G>A	uc021qil.1	+	5	1323	c.888G>A	c.(886-888)agG>agA	p.R296R	CREB3L1_uc021qik.1_Silent_p.R296R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	296					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GAGTCCGGAGGAAAATCAAGA	0.592000			T	FUS	myxofibrosarcoma									13			17		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405230	7405230	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7405230C>T	uc002ghf.4	+	14	2747	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	787					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCATTGCTGTCGTTGGACAGC	0.512000														6			57		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398124	23398124	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:23398124A>G	uc004dal.4	+	1	776	c.768A>G	c.(766-768)tcA>tcG	p.S256S	PTCHD1_uc010nfu.2_Silent_p.S256S	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	256					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CGTCCTCCTCACTGAGGGAAG	0.512000														118			14		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678358	100678358	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100678358T>G	uc003uxp.1	+	2	3714	c.3661T>G	c.(3661-3663)Tta>Gta	p.L1221V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1221	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P1220Q(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCACTCCATTAACAAGTAT	0.522000														325			97		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486425	94486425	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:94486425G>A	uc004arj.2	-	8	2550	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	784	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACGTAGCGGGCGTTGCTCAC	0.652000														55			37		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117150	106117150	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:106117150G>A	uc004emo.3	+	20	3483	c.3318G>A	c.(3316-3318)ctG>ctA	p.L1106L	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	1106						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGCCAAGCTGGAAAATGCAA	0.393000														31			17		0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114277844	114277844	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:114277844T>G	uc003pwd.2	-	3	584	c.297A>C	c.(295-297)gaA>gaC	p.E99D	HDAC2_uc003pwc.2_Missense_Mutation_p.E69D|HDAC2_uc003pwe.2_Missense_Mutation_p.E69D	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	99	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CTGGACAATCTTCTCCAACAT	0.348000														9			6		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351750	117351750	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117351750A>G	uc003vjf.3	-	22	4925	c.4833T>C	c.(4831-4833)tcT>tcC	p.S1611S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1611										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGGAAGAAAAGATTTAACTC	0.418000														84			6		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860250	228860250	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228860250G>A	uc002vpq.2	-	7	4656	c.4609C>T	c.(4609-4611)Ctc>Ttc	p.L1537F	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1537F|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1537						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGCTGGAGAAAGCTACTT	0.512000														65			100		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304769	39304769	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39304769C>T	uc010amw.2	-	0		c.3640G>A			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		AAGAGCACATCTTTGATGCCT	0.532000														11			4		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698254	49698254	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49698254A>C	uc003cxe.4	+	5	9090	c.8976A>C	c.(8974-8976)aaA>aaC	p.K2992N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2992					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)		CTTTGGCCAAAGACCGGGGTG	0.577000														51			9		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553810	140553810	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140553810G>A	uc003lit.3	+	0	1568	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	465	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACAACAGCCCCGCCCTG	0.612000														60			48		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924451	88924451	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:88924451C>T	uc001pcs.3	+	1	983	c.901C>T	c.(901-903)Cct>Tct	p.P301S		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	301					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACGGCGTAATCCTGGAAACCA	0.468000														5			71		0	0	1	0	0
MAK16	84549	broad.mit.edu	37	8	33354259	33354259	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:33354259A>C	uc003xjj.3	+	8	679	c.639_splice	c.e8+1	p.E213_splice	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	213	Asp-rich.					nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						atgatgaGGAAGTAAGTCTTG	0.393000														8			4		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152352862	152352862	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152352862C>T	uc021vrb.1	-	138	18875	c.18846G>A	c.(18844-18846)atG>atA	p.M6282I	NEB_uc002txr.3_Missense_Mutation_p.M2717I|NEB_uc002txu.3_Missense_Mutation_p.M8138I|NEB_uc021vrc.1_Missense_Mutation_p.M8138I|NEB_uc010fnx.3_Missense_Mutation_p.M6270I|NEB_uc021vrd.1_Missense_Mutation_p.M6282I|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Missense_Mutation_p.M82I|NEB_uc002txq.3_Missense_Mutation_p.M161I|NEB_uc010zca.2_Missense_Mutation_p.M113I|NEB_uc010zcb.2_Missense_Mutation_p.M82I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6282					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCCTTGCCCATGTTTTCTT	0.403000														3			9		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10206740	10206740	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10206740C>T	uc002gmk.1	-	37	5632	c.5542G>A	c.(5542-5544)Gaa>Aaa	p.E1848K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1848					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACTTTGCGTTCGTACTTGTGG	0.512000														8			135		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580928	140580928	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140580928C>T	uc003liy.3	+	0	1581	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCTTTCGACTTCCGCG	0.677000														55			34		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235758	155235758	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:155235758C>T	uc004fnv.1	+	6	971	c.792C>T	c.(790-792)atC>atT	p.I264I	IL9R_uc010nvn.2_Silent_p.I243I|IL9R_uc004fnu.1_Silent_p.I299I	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	264					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTCTGATCCCACCCTGGG	0.637000														33			24		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798094	21798094	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21798094G>A	uc001ber.3	+	4	829	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	NBPF3_uc001bes.3_Missense_Mutation_p.R104Q|NBPF3_uc009vqb.3_Missense_Mutation_p.R160Q|NBPF3_uc010odm.2_Missense_Mutation_p.R90Q	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	160						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTCAGGAACGAGAGCTGACC	0.473000														77			120		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067302	102067302	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:102067302T>G	uc001tii.3	+	23	2830	c.2690T>G	c.(2689-2691)tTt>tGt	p.F897C	MYBPC1_uc001tig.3_Missense_Mutation_p.F904C|MYBPC1_uc010svr.2_Missense_Mutation_p.F879C|MYBPC1_uc010svs.2_Missense_Mutation_p.F897C|MYBPC1_uc001tij.3_Missense_Mutation_p.F879C|MYBPC1_uc010svt.2_Missense_Mutation_p.F867C|MYBPC1_uc010svu.2_Missense_Mutation_p.F860C|MYBPC1_uc001tik.3_Missense_Mutation_p.F853C|MYBPC1_uc001tih.3_Missense_Mutation_p.F904C|MYBPC1_uc010svq.2_Missense_Mutation_p.F866C|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	897	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAATCATATTTATTAGAAAA	0.388000														80			63		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204093813	204093813	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204093813T>C	uc001ham.3	+	12	2015	c.1420T>C	c.(1420-1422)Tat>Cat	p.Y474H	SOX13_uc010pqp.2_Missense_Mutation_p.Y473H|SOX13_uc010pqq.2_Missense_Mutation_p.Y341H	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	474					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGCCCTACTATGAGGAACA	0.632000														21			20		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35620618	35620618	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:35620618A>G	uc002hnm.3	-	10	1379	c.1188T>C	c.(1186-1188)gcT>gcC	p.A396A	ACACA_uc002hnk.3_Silent_p.A318A|ACACA_uc002hnl.3_Silent_p.A338A|ACACA_uc002hnn.3_Silent_p.A396A|ACACA_uc002hno.3_Silent_p.A433A|ACACA_uc010cuz.3_Silent_p.A396A	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	396	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCTGGAGTAGCAATAGTAG	0.373000														139			12		0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74889754	74889754	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:74889754C>T	uc003kdw.3	+	11	1504	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	POLK_uc003kdx.3_Intron|POLK_uc003kdy.3_Intron|POLK_uc010izq.3_Intron|POLK_uc003kec.3_Missense_Mutation_p.R380C|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Intron|POLK_uc003ked.3_Intron|POLK_uc003kee.3_Intron	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	470					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTAAAAACTCGTGCATCTAC	0.318000								DNA polymerases (catalytic subunits)						12			15		0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716590	40716591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40716590_40716591CC>TT	uc010cyj.3	+	4	1331_1332	c.1129_1130CC>TT	c.(1129-1131)cca>TTa	p.P377L	COASY_uc002hzz.3_Missense_Mutation_p.P348L|COASY_uc002iab.3_Missense_Mutation_p.P53L|COASY_uc002iad.3_Missense_Mutation_p.P348L|COASY_uc002iac.3_Missense_Mutation_p.P348L|COASY_uc002iae.3_Missense_Mutation_p.P143L|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	348	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GCTTCGGCCTCCATATGTAAGC	0.579000														43			17		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418946	23418946	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23418946C>T	uc001bgk.2	-	3	2359	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	LUZP1_uc010odv.1_Silent_p.S603S|LUZP1_uc001bgl.3_Silent_p.S603S|LUZP1_uc001bgm.1_Silent_p.S603S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	603						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AAGGATACTTCGATAGAACAG	0.468000														63			70		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28378660C>T	uc001iua.1	-	13	1467	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E355K|MPP7_uc009xla.2_Missense_Mutation_p.E355K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCACTTCTTCGTATGTGGGT	0.378000														59			78		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782364	107782366	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:107782364_107782366TC>CT	uc003ymm.4	-	0	107_109	c.53_55GA>AG	c.(52-57)cggaag>cAGag	p.18_19RK>Q		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	18					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGCGTATCTTCCGGAGGGCGCT	0.616000														63			24		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225745	9225745	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9225745A>C	uc001mhl.3	-	3	668	c.411T>G	c.(409-411)ttT>ttG	p.F137L	DENND5A_uc010rbw.2_Missense_Mutation_p.F137L|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	137	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTCATAAAATGTGAGGG	0.507000														44			8		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886481	119886481	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:119886481A>G	uc011bjf.2	-	8	2223	c.1843T>C	c.(1843-1845)Tct>Cct	p.S615P	GPR156_uc011bjg.2_Missense_Mutation_p.S611P	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	615						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAGGGTGCAGAGCCAGGAAAG	0.627000														85			6		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848524	166848524	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:166848524C>T	uc002udo.4	-	27	5488	c.5261G>A	c.(5260-5262)gGa>gAa	p.G1754E	SCN1A_uc010fpk.3_Missense_Mutation_p.G1726E|SCN1A_uc021vsb.1_Missense_Mutation_p.G1743E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1754						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)	CCCACAGTCTCCCTTAACTGA	0.473000														109			53		0	0	1	0	0
PPIL1	51645	broad.mit.edu	37	6	36823669	36823669	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36823669G>A	uc003omu.2	-	3	673	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	141	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ATTCCCACGCGATTCACCATT	0.542000														47			40		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824018	146824018	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:146824018G>A	uc003ikn.3	-	1	441	c.393C>T	c.(391-393)tcC>tcT	p.S131S	ZNF827_uc003ikm.3_Silent_p.S131S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGAGTTTGAGGGAACCAGCCT	0.592000														26			11		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162311	47162311	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47162311T>G	uc003cqv.3	-	2	3868	c.3782A>C	c.(3781-3783)cAg>cCg	p.Q1261P	SETD2_uc003cqs.3_Missense_Mutation_p.Q1272P	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTCAGGTTGCTGATACGTGGT	0.468000			"""N, F, S, Mis"""		clear cell renal carcinoma									63			8		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11895777	11895777	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:11895777G>T	uc002gng.1	-	3	975	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	ZNF18_uc002gnh.1_Missense_Mutation_p.Q124K|ZNF18_uc002gni.1_Missense_Mutation_p.Q124K	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	124					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CACAGTCTCTGGGGGTCCCCC	0.537000														76			5		1.024e-07	1.02745e-07	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140181451	140181451	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140181451T>C	uc003lhf.2	+	0	669	c.669T>C	c.(667-669)acT>acC	p.T223T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.T223T	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	238	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACTGGCACGACTC	0.403000														27			11		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876828	45876828	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45876828G>A	uc021wjs.1	+	0	301	c.301G>A	c.(301-303)Gag>Aag	p.E101K	LRRC3_uc002zfa.3_Missense_Mutation_p.E101K	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	101						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CAACGCCATCGAGGCCATCGG	0.672000														49			58		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220178604	220178604	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220178604A>C	uc001hly.1	-	15	2319	c.2049T>G	c.(2047-2049)ccT>ccG	p.P683P	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Silent_p.P434P|EPRS_uc001hlz.1_Silent_p.P690P|EPRS_uc009xdt.1_Silent_p.P271P	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	683	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	p.P683R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CAGGTTCATAAGGTTGATCAC	0.328000														20			5		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243965	88243965	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88243965A>C	uc003hqo.2	-	0	92	c.29T>G	c.(28-30)cTt>cGt	p.L10R	HSD17B13_uc010ikk.2_Missense_Mutation_p.L10R	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	10						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GGTGATCAGAAGCAGAAGGAT	0.458000														27			11		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18466971	18466971	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18466971G>A	uc001rdt.3	+	5	1226	c.1110G>A	c.(1108-1110)agG>agA	p.R370R	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.R370R|PIK3C2G_uc010sic.2_Silent_p.R148R	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	370					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGAAAAGTAGGGAAGCTCCAG	0.378000														6			3		0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891601	62891601	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:62891601A>C	uc002yil.4	+	1	483	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	PCMTD2_uc002yim.4_Missense_Mutation_p.S95R	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	95						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGGTATCTCAGCTCCATGGT	0.527000														106			7		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421961	153421961	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153421961A>C	uc004fjz.4	+	4	970	c.937A>C	c.(937-939)Agt>Cgt	p.S313R		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	313					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTGCCAAAAGTGCCACTAT	0.537000														307			6		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428479	56428479	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:56428479C>T	uc001sjb.1	+	8	1281	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	IKZF4_uc010sqa.1_Silent_p.A327A|IKZF4_uc001sjc.1_Silent_p.A374A|IKZF4_uc001sjd.1_Silent_p.A272A|IKZF4_uc009zoi.1_Silent_p.A329A|IKZF4_uc001sje.1_Silent_p.A333A	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	374					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCCCTGGCCTTTGTGGGTG	0.562000														33			27		0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97164169	97164169	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:97164169C>T	uc010fhx.3	-	5		c.936G>A			NEURL3_uc002swc.3_Non-coding_Transcript					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		ATGGCACACTCCTCTCCTGGT	0.587000														23			4		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624608	33624608	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33624608G>A	uc010mjx.3	+	0	386	c.337G>A	c.(337-339)Gag>Aag	p.E113K	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	113					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TGACGCTTCTGAGCTAAAAGC	0.493000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256382	140256382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140256382C>T	uc003lic.2	+	0	1452	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S442F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	456	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGAGTGTCCGTGGAGGTG	0.662000														68			55		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224493	172224493	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:172224493T>G	uc003fid.3	-	4	758	c.635A>C	c.(634-636)aAa>aCa	p.K212T	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	212					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACTTGTGTATTTGTAAATATA	0.333000														113			8		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360946	10360946	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10360946G>A	uc002gmn.3	-	15	1799	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	563	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAAGTTGTTGGATTTTCCAAG	0.527000														62			43		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526445	23526445	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:23526445C>T	uc003jgo.3	+	10	1430	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	416					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						CTCAGAACTTCCCAGGACCAT	0.488000										HNSCC(3;0.000094)				35			100		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62464069	62464069	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:62464069C>A	uc003dll.2	-	22	3556	c.3196G>T	c.(3196-3198)Gat>Tat	p.D1066Y	CADPS_uc003dlj.1_Missense_Mutation_p.D16Y|CADPS_uc003dlk.1_Missense_Mutation_p.D514Y|CADPS_uc003dlm.2_Missense_Mutation_p.D1027Y|CADPS_uc003dln.2_Missense_Mutation_p.D987Y|CADPS_uc021wzv.1_Missense_Mutation_p.D1057Y	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1066	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I1065I(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAAAACAGATCTTCTGAGGTG	0.483000														17			6		0.0293803	0.029385	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56515325	56515325	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56515325G>A	uc002qmj.3	+	1	306	c.306G>A	c.(304-306)gaG>gaA	p.E102E	NLRP5_uc002qmi.3_Silent_p.E102E	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	102	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGAAATCGAGAATGCCAACG	0.428000														72			13		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78700963	78700963	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:78700963G>A	uc003dqe.2	-	18	2939	c.2731C>T	c.(2731-2733)Ctc>Ttc	p.L911F	ROBO1_uc003dqc.2_Missense_Mutation_p.L875F|ROBO1_uc003dqd.2_Missense_Mutation_p.L875F|ROBO1_uc003dqb.2_Missense_Mutation_p.L872F|ROBO1_uc010hoh.2_Missense_Mutation_p.L103F|ROBO1_uc011bgl.1_Missense_Mutation_p.L483F	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	911					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGACCATGAGGATGATCCAA	0.502000														12			47		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75357386	75357386	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:75357386T>A	uc004aiz.1	+	9	1020	c.480T>A	c.(478-480)ttT>ttA	p.F160L	TMC1_uc010moz.1_Missense_Mutation_p.F118L|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.F14L|TMC1_uc010mpa.1_Missense_Mutation_p.F14L	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	160	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane		p.D159N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCGTGATTTTGAGAACTTCA	0.383000														20			6		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535217	71535217	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:71535217C>T	uc002atb.1	+	3	773	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	232	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTGGCCCTCGCTCTGGACT	0.577000														22			15		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35812661	35812661	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35812661A>G	uc002xgp.3	+	1	396	c.92A>G	c.(91-93)aAg>aGg	p.K31R	RPN2_uc010gfw.2_5'UTR|RPN2_uc002xgq.3_Missense_Mutation_p.K31R	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	31					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TACCTCACCAAGCATGACGTG	0.537000														88			15		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4994867	4994867	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4994867C>T	uc002gaq.3	+	1	193	c.68C>T	c.(67-69)tCa>tTa	p.S23L	ZFP3_uc021tog.1_Missense_Mutation_p.S23L	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCACATGGGTCATTATTAGAA	0.423000														2			46		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438257	23438257	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:23438257G>A	uc002zwu.1	+	1	912	c.375G>A	c.(373-375)ctG>ctA	p.L125L	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	125						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGAGCTGCTGGGTGTCATGC	0.667000														66			49		0	0	1	0	0
VMAC	400673	broad.mit.edu	37	19	5908948	5908948	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5908948A>C	uc002mds.4	+	1	355	c.305A>C	c.(304-306)gAg>gCg	p.E102A		NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN	Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.	102						cytoplasm				lung(1)	1						CCCCGGGCTGAGCTGCTGCAG	0.697000														30			6		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829664	26829664	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26829664C>T	uc003acg.2	+	1	480	c.83C>T	c.(82-84)tCg>tTg	p.S28L		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	28					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCCAAGATGTCGCTCGAGTGG	0.652000														64			63		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692587	44692587	+	Silent	SNP	C	T	T	rs73432530	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44692587C>T	uc003bet.2	-	2	379	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	82						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CCGTGAGGTTCGCCTGCATCA	0.597000														97			94		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328855	23328855	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:23328855G>A	uc002nrb.1	+	3		c.1208G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCATAATGGAGAAAAACCCTA	0.353000														15			5		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32548082	32548082	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32548082C>T	uc003amd.3	-	4	414	c.373_splice	c.e4-1	p.E125_splice		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	125										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CAGGTATTTCCTGCAATAAGA	0.368000														46			23		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19348763	19348763	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:19348763G>A	uc002zpf.1	-	16	2302	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	HIRA_uc011agx.1_Silent_p.L560L|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.L650L|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	694	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AACTTACCTGGAGGGTGAATG	0.542000														31			12		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9782037	9782037	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9782037A>G	uc001aqe.4	+	15	2340	c.2132A>G	c.(2131-2133)gAa>gGa	p.E711G	PIK3CD_uc001aqb.4_Missense_Mutation_p.E687G|PIK3CD_uc010oaf.2_Missense_Mutation_p.E686G|PIK3CD_uc021ogb.1_Missense_Mutation_p.E471G	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	687					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCAGGGGGAAGCACTGAGC	0.667000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			64		0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57744955	57744955	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57744955C>T	uc002qoe.3	+	4	752	c.563C>T	c.(562-564)tCt>tTt	p.S188F	AURKC_uc002qoc.3_Missense_Mutation_p.S169F|AURKC_uc002qod.3_Missense_Mutation_p.S154F|AURKC_uc010etv.3_Missense_Mutation_p.S185F	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	188	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TTTGGCTGGTCTGTGCACACC	0.493000														73			23		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733000	164733000	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164733000C>T	uc003fei.3	-	32	3973	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1304	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTTGTTTCATTTCCTGAA	0.353000										HNSCC(35;0.089)				39			18		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583966	42583966	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42583966T>G	uc002osk.4	+	1	1713	c.1478T>G	c.(1477-1479)cTt>cGt	p.L493R	ZNF574_uc002osm.4_Missense_Mutation_p.L403R|ZNF574_uc021uva.1_Missense_Mutation_p.L403R	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TTTGTCAACCTTACCAAGTTC	0.597000														97			6		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74274085	74274085	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74274085G>A	uc002jrd.1	-	14	4784	c.4604C>T	c.(4603-4605)tCc>tTc	p.S1535F	QRICH2_uc010dgw.1_Missense_Mutation_p.S379F	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1535							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTAGCAGGGGGAGCCCAGGCA	0.622000														36			42		0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99718719	99718719	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99718719A>C	uc003yio.3	-	7	1218	c.744T>G	c.(742-744)ccT>ccG	p.P248P	STK3_uc003yip.3_Silent_p.P220P|STK3_uc010mbm.1_Intron	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	220	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TATCAGCATAAGGAGGTTTTC	0.388000														35			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905576	54905576	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54905576G>A	uc003dhf.3	+	17	1685	c.1637G>A	c.(1636-1638)gGa>gAa	p.G546E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G452E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G280E	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	546	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACGAAGAAGGAAAAAAGCGA	0.448000														46			19		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17720863	17720863	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17720863G>A	uc001bak.1	+	11	1250	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	409					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GATTCCATTGGGAACCTGATG	0.567000														13			18		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402709	248402709	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248402709T>C	uc010pzh.2	+	0	479	c.479T>C	c.(478-480)cTt>cCt	p.L160P		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V159M(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCATAGTGCTTGCAGCTGTC	0.458000														94			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38980008	38980008	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38980008A>G	uc002oit.3	+	34	5869	c.5739A>G	c.(5737-5739)gcA>gcG	p.A1913A	RYR1_uc002oiu.3_Silent_p.A1913A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1913	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aagaggaggCAGCAGAAGGGG	0.522000														42			13		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387442	20387442	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20387442T>A	uc002dhc.1	-	3	714	c.491A>T	c.(490-492)cAg>cTg	p.Q164L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	164					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			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						CTCTGCCACCTGCTCGCTGCT	0.498000														32			10		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338034	39338034	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39338034A>C	uc021uuh.1	-	1	319	c.308T>G	c.(307-309)gTt>gGt	p.V103G	HNRNPL_uc021uui.1_5'UTR	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	103	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding	p.P102Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GATGTGGACAACTGGGGAGGC	0.537000														65			9		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876722	27876722	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27876722G>A	uc021ojw.1	-	0	1905	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	AHDC1_uc009vsy.3_Silent_p.P635P|AHDC1_uc009vsz.1_Silent_p.P635P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	635							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCCAGCAGCGGGGCGGTGAGC	0.677000														86			104		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531990	50531990	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50531990G>A	uc021pqb.1	+	0	1400	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	C10orf71_uc021pqa.1_Missense_Mutation_p.R466Q|C10orf71_uc021pqc.1_Missense_Mutation_p.R467Q	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	467										endometrium(1)	1						CCAGCAGAGCGAACCCCATCA	0.542000														2			17		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606488	21606488	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:21606488C>T	uc002npw.3	+	3	1146	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y	ZNF493_uc002npx.3_Missense_Mutation_p.H215Y|ZNF493_uc002npy.3_Missense_Mutation_p.H215Y|ZNF493_uc021urq.1_Missense_Mutation_p.H215Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCACACTGAAGA	0.348000														46			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997168	8997169	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8997168_8997169CT>TA	uc002mkp.3	-	59	41231_41232	c.41027_41028AG>TA	c.(41026-41028)aag>aTA	p.K13676I	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.K493I|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13678	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGGTGCTCTTGAACAGGGA	0.579000														64			25		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093236	69093236	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:69093236C>T	uc002sez.1	-	1	961	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	268					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCAGTTCCTCCTTCCTCTCC	0.483000														45			15		0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14862289	14862289	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14862289A>C	uc002mzp.1	-	15	2439	c.1983T>G	c.(1981-1983)atT>atG	p.I661M	EMR2_uc010dzs.1_Missense_Mutation_p.I120M|EMR2_uc010xnw.1_Missense_Mutation_p.I603M|EMR2_uc002mzo.1_Missense_Mutation_p.I650M|EMR2_uc002mzq.1_Missense_Mutation_p.I601M|EMR2_uc002mzr.1_Missense_Mutation_p.I612M|EMR2_uc002mzs.1_Missense_Mutation_p.I519M|EMR2_uc002mzt.1_Missense_Mutation_p.I557M|EMR2_uc002mzu.1_Missense_Mutation_p.I568M|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	661					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGCTGCAGAAATGGCCACTG	0.507000														49			21		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880930	1880930	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:1880930C>T	uc003jcz.2	-	2	435	c.316G>A	c.(316-318)Gat>Aat	p.D106N	IRX4_uc011cmf.1_5'UTR	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	106					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CCCGAACCATCCTTGGAATCA	0.632000														74			77		0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701818	46701818	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46701818C>T	uc001ndd.3	-	9	904	c.835G>A	c.(835-837)Ggc>Agc	p.G279S		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	279	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CGGAAGATGCCCTCGGTGGTG	0.622000														50			33		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011122	108011122	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:108011122C>T	uc001tmk.1	+	8	2661	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.P714S|BTBD11_uc001tml.1_Missense_Mutation_p.P251S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	714						integral to membrane	DNA binding	p.D713N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGTGCCGATCCCCTGATAGG	0.483000														9			55		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515118	47515118	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47515118C>T	uc001cqt.3	+	10	1547	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.Q432*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.Q368*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	433						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GAGGTTCTCTCAGGAGAATTC	0.458000														38			57		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44128288	44128288	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44128288G>A	uc002oxc.1	-	7	1084	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	345					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGAGCACCAGACCATGCCCA	0.607000														66			14		0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623343	21623343	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21623343G>A	uc010tlp.2	-	0	842	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S281S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCCCTGGGCCGAGCTCATTTT	0.488000														30			8		0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30522672	30522672	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30522672G>A	uc003nqh.3	-	3	1788	c.397C>T	c.(397-399)Cct>Tct	p.P133S	GNL1_uc011dmi.2_5'UTR|GNL1_uc011dmj.2_Missense_Mutation_p.P131S|GNL1_uc011dmk.2_Intron|PRR3_uc003nqi.2_5'Flank|PRR3_uc003nqj.2_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	133					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTCCAAGGAGGACGTCGAGGA	0.488000														37			23		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201334319	201334319	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201334319G>A	uc001gwf.3	-	10	480	c.411_splice	c.e10+1	p.I137_splice	TNNT2_uc021phc.1_Splice_Site_p.I127_splice|TNNT2_uc001gwg.3_Splice_Site_p.I127_splice|TNNT2_uc001gwh.3_Splice_Site_p.I118_splice|TNNT2_uc001gwi.3_Intron|TNNT2_uc009wzr.3_Splice_Site_p.I68_splice|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Splice_Site_p.I102_splice|TNNT2_uc001gwk.1_Splice_Site_p.I68_splice|TNNT2_uc009wzt.1_Splice_Site_p.I127_splice	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	137					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GGACACCTACGATCCTGTCTT	0.557000														84			60		0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19027875	19027875	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:19027875C>T	uc004cyx.3	-	17	1533	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	GPR64_uc004cze.3_Missense_Mutation_p.G401S|GPR64_uc004cza.3_Missense_Mutation_p.G409S|GPR64_uc004czf.3_Missense_Mutation_p.G393S|GPR64_uc004cyy.3_Missense_Mutation_p.G428S|GPR64_uc004czc.3_Missense_Mutation_p.G415S|GPR64_uc004cyz.3_Missense_Mutation_p.G417S|GPR64_uc004czb.3_Missense_Mutation_p.G431S|GPR64_uc004czd.3_Missense_Mutation_p.G407S|GPR64_uc004cyw.3_Missense_Mutation_p.G415S|GPR64_uc010nfj.3_Missense_Mutation_p.G401S	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	431					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGCTGTAGGCCAATGTCATCC	0.408000														0			39		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37584041	37584041	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:37584041G>A	uc002hrv.4	-	9	864	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	MED1_uc010wee.2_Missense_Mutation_p.H46Y|MED1_uc002hru.2_Missense_Mutation_p.H218Y	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	218	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTCATTAAATGACCTATAAAA	0.299000										HNSCC(31;0.082)				0			16		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6025307	6025307	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6025307G>A	uc002wmo.2	-	3	1104	c.880C>T	c.(880-882)Cct>Tct	p.P294S		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	294						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTCCAAGGAGGGAAGGAACTC	0.443000														26			8		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32463321	32463321	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32463321A>G	uc002roi.3	-	5	2662	c.2401T>C	c.(2401-2403)Ttg>Ctg	p.L801L	NLRC4_uc021vfq.1_Silent_p.L801L|NLRC4_uc002roj.2_Silent_p.L801L|NLRC4_uc010ezt.2_Silent_p.L136L	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	801					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTCAGACAAGTGGGTCAAA	0.393000														59			3		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170720	58170720	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:58170720T>C	uc010rkf.2	-	0	163	c.163A>G	c.(163-165)Aat>Gat	p.N55D		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATGGGATTGTGGAGACAG	0.418000														53			60		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48246561	48246561	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48246561T>G	uc002iqi.3	+	5	729	c.693T>G	c.(691-693)tcT>tcG	p.S231S	SGCA_uc010wmh.1_Silent_p.S129S|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	231					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACTTCTGTCTTGCTACGACA	0.632000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			5		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962683	34962683	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:34962683G>A	uc004ddi.2	+	0	1771	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	579										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAAGCCTGATGAACCCGACAT	0.448000														3			90		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5841770	5841770	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:5841770G>A	uc001qnm.2	-	14	1533	c.1461C>T	c.(1459-1461)acC>acT	p.T487T		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	492						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCGAACTTTGGTTTCATACT	0.448000														36			6		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62979530	62979531	+	Nonsense_Mutation	DNP	GA	AC	AC			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62979530_62979531GA>AC	uc001daq.3	-	31	4009_4010	c.3975_3976TC>GT	c.(3973-3978)agtcga>agGTga	p.1325_1326SR>R*	DOCK7_uc001dan.3_Nonsense_Mutation_p.1186_1187SR>R*|DOCK7_uc001dao.3_Nonsense_Mutation_p.1186_1187SR>R*|DOCK7_uc001dap.3_Nonsense_Mutation_p.1294_1295SR>R*|DOCK7_uc001dam.3_Nonsense_Mutation_p.505_506SR>R*|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1325					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAAGGCTTCGACTTGATTCTG	0.406000														77			69		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705338	30705338	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30705338A>C	uc003xil.3	-	0	1196	c.1196T>G	c.(1195-1197)gTt>gGt	p.V399G		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	399										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGAAATAACTGTATCAAT	0.333000														55			15		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71499184	71499184	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:71499184A>T	uc003xyo.2	-	7	952	c.692T>A	c.(691-693)tTt>tAt	p.F231Y	TRAM1_uc011lfc.2_Missense_Mutation_p.F200Y	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	231	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GTGGAAAAGAAATTCAACAAA	0.308000														43			7		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133914	22133914	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22133914C>T	uc010tmd.2	+	0	618	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTGGAACCATCTCCCTCTCCT	0.483000														23			45		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152694190	152694190	+	Missense_Mutation	SNP	T	G	G	rs35379711	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:152694190T>G	uc021zhb.1	-	56	9712	c.9489A>C	c.(9487-9489)caA>caC	p.Q3163H	SYNE1_uc003qot.4_Missense_Mutation_p.Q3170H|SYNE1_uc003qou.4_Missense_Mutation_p.Q3163H|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Missense_Mutation_p.Q241H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3163					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CAGATTCTTTTTGGTGGAGAT	0.373000										HNSCC(10;0.0054)				60			27		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89975415	89975415	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89975415G>A	uc003kju.3	+	25	5589	c.5493G>A	c.(5491-5493)atG>atA	p.M1831I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1831					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGGGACATGGAATTCTTCC	0.388000														11			12		0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23743876	23743876	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23743876A>G	uc021oig.1	-	3	381	c.246T>C	c.(244-246)ccT>ccC	p.P82P	TCEA3_uc021oih.1_Silent_p.P61P|TCEA3_uc010ody.1_Silent_p.P45P	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	82	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	p.S81S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTGGGGGTCCAGGGGAGTCTG	0.512000														37			18		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945370	55945370	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:55945370T>G	uc010spp.2	+	0	360	c.360T>G	c.(358-360)cgT>cgG	p.R120R		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D119H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTATGATCGTTATGTGGCCA	0.443000														53			5		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46968011	46968011	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46968011G>A	uc003oyt.3	-	14	2880	c.2681C>T	c.(2680-2682)aCt>aTt	p.T894I	GPR110_uc011dwl.2_Missense_Mutation_p.T582I	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	894					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGAATCTCCAGTATGAGAAAA	0.338000														56			10		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841699	8841699	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8841699C>T	uc010xkg.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATATTCTTCCTCACACTGA	0.532000														33			27		0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1034362	1034362	+	Missense_Mutation	SNP	G	A	A	rs143957338		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:1034362G>A	uc003jbt.1	+	5	348	c.343G>A	c.(343-345)Gat>Aat	p.D115N	NKD2_uc010itf.1_Missense_Mutation_p.D115N	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	115	Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ACTCCAGTGCGATGTCTCGGT	0.627000														9			10		0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100880831	100880831	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100880831A>T	uc003uyg.2	-	0	397	c.32T>A	c.(31-33)tTc>tAc	p.F11Y	CLDN15_uc003uyh.2_Missense_Mutation_p.F11Y|CLDN15_uc003uyi.3_Missense_Mutation_p.F11Y|CLDN15_uc022aja.1_Missense_Mutation_p.F11Y	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTGCCATGAAGAAGCCAAA	0.612000														17			17		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905698	5905698	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5905698A>G	uc010qzs.2	+	0	176	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H58D(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCTACACCAGCCCATGTTC	0.428000														121			34		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968042	99968042	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:99968042C>T	uc001kox.4	+	4	521	c.171C>T	c.(169-171)tcC>tcT	p.S57S	C10orf28_uc001kow.4_Silent_p.S57S|C10orf28_uc001koy.4_Silent_p.S57S|C10orf28_uc009xvx.3_Silent_p.S57S|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	57							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GTTCTCTCTCCCAAAAAGAAG	0.393000														1			28		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026296	16026296	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:16026296C>T	uc010lsu.3	-	3	419	c.355G>A	c.(355-357)Gga>Aga	p.G119R	MSR1_uc003wwz.3_Missense_Mutation_p.G101R|MSR1_uc003wxa.3_Missense_Mutation_p.G101R|MSR1_uc003wxb.3_Missense_Mutation_p.G101R|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	101					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G101R(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTCATTTCCTTTTCCCGTG	0.373000														87			53		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651456	135651456	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135651456C>T	uc003lbn.2	-	2	1014	c.792G>A	c.(790-792)agG>agA	p.R264R	TRPC7_uc010jef.2_Silent_p.R255R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	264					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGATAACTTCCTGTAATCGT	0.483000														5			6		0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135360775	135360775	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:135360775T>G	uc003qez.2	-	3	573	c.366A>C	c.(364-366)caA>caC	p.Q122H	HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Missense_Mutation_p.Q80H|HBS1L_uc003qfa.2_Missense_Mutation_p.Q122H	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	122					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCACTCTATCTTGTTCCAGAA	0.398000														59			41		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072163	41072163	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41072163C>T	uc002ony.3	+	29	6320	c.6234C>T	c.(6232-6234)agC>agT	p.S2078S	SPTBN4_uc002onz.3_Silent_p.S2078S|SPTBN4_uc010egx.3_Silent_p.S821S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2078					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|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)			AGCTGGGCAGCAGCGTGGATG	0.662000														4			8		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808722	241808722	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241808722C>T	uc002waa.4	+	1	422	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	AGXT_uc010zoi.1_Silent_p.L101L	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	101					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGACTCCTTCCTGGTTGGGGC	0.637000														31			62		0	0	1	0	0
CSF2	1437	broad.mit.edu	37	5	131409651	131409651	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131409651G>A	uc003kwf.3	+	0	167	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	45					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCCTGAACCTGAGTAGAGACA	0.637000														22			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202291	140202291	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140202291G>A	uc003lhl.2	+	0	931	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.D311N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.D311N	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	327	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTATGAAGACTATAACTC	0.308000														12			13		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138114	31138114	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:31138114T>G	uc010qdz.2	-	6	1655	c.1220A>C	c.(1219-1221)aAg>aCg	p.K407T	ZNF438_uc001ivn.3_Missense_Mutation_p.K358T|ZNF438_uc010qdy.2_Missense_Mutation_p.K397T|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.K407T|ZNF438_uc001ivp.4_Missense_Mutation_p.K397T|ZNF438_uc010qea.2_Missense_Mutation_p.K407T|ZNF438_uc010qeb.2_Missense_Mutation_p.K407T|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	407					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)				ATCTCTACACTTATTAATGAT	0.383000														34			17		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279080	152279080	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152279080C>T	uc001ezu.1	-	2	8318	c.8282G>A	c.(8281-8283)gGa>gAa	p.G2761E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCTAGTGCT	0.572000									Ichthyosis					288			77		0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27470347	27470347	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:27470347T>A	uc001rhr.3	+	9	1115	c.916T>A	c.(916-918)Tgg>Agg	p.W306R	STK38L_uc010sjm.2_Missense_Mutation_p.W213R|STK38L_uc010sjn.2_Missense_Mutation_p.W44R|STK38L_uc010sjo.2_5'Flank	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	306	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ATTGTGTGACTGGTGGTCTTT	0.368000														81			10		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123787509	123787509	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123787509C>T	uc010nqy.3	-	6	1357	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K	ODZ1_uc011muj.2_Silent_p.K430K|ODZ1_uc004euj.3_Silent_p.K431K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	431					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AAATATTGAACTTCAGATATA	0.398000														6			90		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27448014	27448014	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27448014C>T	uc002rji.3	+	10	1685	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I	CAD_uc010eyw.3_Missense_Mutation_p.T508I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	508	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGTGGAGACCATTGAGCTG	0.607000														27			8		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443915	5443915	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5443915T>G	uc010qzd.2	+	0	575	c.485T>G	c.(484-486)cTt>cGt	p.L162R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCTCCCTTTTCTTACTC	0.527000														148			19		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36887777	36887777	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36887777C>T	uc003cgj.3	-	15	5269	c.5021G>A	c.(5020-5022)aGa>aAa	p.R1674K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1674					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACAAAATCTCTTCTAATGAA	0.413000														5			5		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044234	133044234	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133044234C>T	uc003ytg.2	-	10	925	c.925G>A	c.(925-927)Gga>Aga	p.G309R	OC90_uc011lix.1_Missense_Mutation_p.G309R	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	325					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCATCTCTCCAAGCTGTGGC	0.527000														55			33		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498771	79498771	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79498771G>A	uc011ctj.2	-	1	286	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SERINC5_uc003kgj.3_Silent_p.F43F|SERINC5_uc003kgm.3_Silent_p.F43F|SERINC5_uc003kgk.3_Silent_p.F43F|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	43					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CGACCAGAATGAAGTAGAGGG	0.552000														15			3		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10210311	10210311	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10210311T>A	uc002gmk.1	-	35	5330	c.5240A>T	c.(5239-5241)aAc>aTc	p.N1747I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1747					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.E1746Q(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGATCGAGTTCTCCACCTC	0.488000														48			38		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97532191	97532191	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:97532191T>A	uc002sxg.4	-	0	477	c.246A>T	c.(244-246)tcA>tcT	p.S82S	SEMA4C_uc002sxh.4_Intron	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	0	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCATGGCTGCTGATGGGCAGG	0.637000														58			21		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950850	24950850	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24950850G>A	uc002dnb.3	-	16	1652	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	ARHGAP17_uc002dmy.3_5'Flank|ARHGAP17_uc002dmz.3_Missense_Mutation_p.S44F|ARHGAP17_uc002dna.3_Missense_Mutation_p.S247F|ARHGAP17_uc002dnc.3_Intron|ARHGAP17_uc010vcf.2_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GAAAGCGGGGGATATGTGCTT	0.592000														2			11		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738915	12738915	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12738915A>G	uc002mua.2	+	3	734	c.572A>G	c.(571-573)aAg>aGg	p.K191R	ZNF791_uc010xml.1_Missense_Mutation_p.K159R|ZNF791_uc010dyu.1_Missense_Mutation_p.K82R|ZNF791_uc010xmm.1_Missense_Mutation_p.K82R	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TATGAATGTAAGCAATGTGGA	0.398000														43			13		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12482995	12482995	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:12482995T>C	uc001rai.1	-	3	1520	c.1262A>G	c.(1261-1263)gAt>gGt	p.D421G	MANSC1_uc010shm.1_Missense_Mutation_p.D355G|MANSC1_uc001raj.1_Missense_Mutation_p.D387G	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	421						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)		GATCAAATAATCCAGTCTTGA	0.473000														29			23		0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	65008883	65008883	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:65008883G>A	uc003jud.3	-	2	329	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta (SGTB), mRNA.	37							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TCCAAGCACTGAATTGCAACT	0.313000														24			14		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79170508	79170508	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79170508A>C	uc002jzp.1	-	14	2101	c.1901T>G	c.(1900-1902)aTt>aGt	p.I634S	AZI1_uc002jzm.1_Missense_Mutation_p.I61S|AZI1_uc002jzn.1_Missense_Mutation_p.I631S|AZI1_uc002jzo.1_Missense_Mutation_p.I631S|AZI1_uc010wum.1_Missense_Mutation_p.I634S|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	634					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.Q633H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCTGGTCAATGAAGGCCAA	0.682000														11			6		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115221038	115221038	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:115221038C>T	uc001efe.2	-	7	1155	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	AMPD1_uc001eff.2_Silent_p.E365E	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	336					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGATTCTTCTCTTTGGTGC	0.398000														65			49		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196547275	196547275	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196547275A>G	uc003fwy.4	+	12	1509	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	396	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATCACCCCTGAGCAGAGCAAA	0.478000														112			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583188	179583188	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179583188C>T	uc021vsy.1	-	81	21138	c.20913G>A	c.(20911-20913)gaG>gaA	p.E6971E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E3632E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7898	Ig-like 51.						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)			TACTGCATCTCTCAGATTGTG	0.428000														31			6		0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139846844	139846844	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139846844C>T	uc004ckc.3	+	0	73	c.65C>T	c.(64-66)cCa>cTa	p.P22L	LCN12_uc022bpx.1_Missense_Mutation_p.P22L|LCN12_uc004ckb.3_Missense_Mutation_p.P22L			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	22					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCCCAGACCCCAACCCCCCTG	0.637000														5			5		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247862	43247862	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43247862G>A	uc002lbe.3	+	13	2598	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	SLC14A2_uc010dnj.3_Silent_p.V594V	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	594						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATGTTTGTGAACAACCCCC	0.557000														7			77		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135628535	135628535	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:135628535G>A	uc002ttz.3	+	7	648	c.581_splice	c.e7-1	p.G194_splice	ACMSD_uc002tua.3_Splice_Site_p.G136_splice|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	194					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCTCTTTCAGGAATGCCAGCA	0.453000														17			10		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534353	3534353	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:3534353A>C	uc002kmf.3	-	9	2845	c.2318T>G	c.(2317-2319)aTt>aGt	p.I773S	DLGAP1_uc010wyz.2_Missense_Mutation_p.I773S|DLGAP1_uc010dkn.3_Missense_Mutation_p.I481S|DLGAP1_uc002kme.2_Missense_Mutation_p.I471S|DLGAP1_uc010wyw.2_Missense_Mutation_p.I479S|DLGAP1_uc010wyx.2_Missense_Mutation_p.I495S|DLGAP1_uc010wyy.2_Missense_Mutation_p.I457S|DLGAP1_uc002kmg.3_Missense_Mutation_p.I471S	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	773					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATAGAGTCAATCCAGGGGTC	0.572000														40			13		0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36896631	36896631	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:36896631T>G	uc002hqp.1	-	2	271	c.25A>C	c.(25-27)Atc>Ctc	p.I9L		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	9					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCTCTGTGATTTTGATCCGT	0.597000														68			8		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8523525	8523525	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8523525C>T	uc003zkk.3	-	19	1423	c.680_splice	c.e19-1	p.E227_splice	PTPRD_uc003zkp.3_Splice_Site_p.E227_splice|PTPRD_uc003zkq.3_Splice_Site_p.E227_splice|PTPRD_uc003zkr.3_Splice_Site_p.E221_splice|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Splice_Site_p.E224_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	227					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTCGCAGCTCTGAGGGATGT	0.373000										TSP Lung(15;0.13)				18			6		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579463	58579463	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58579463C>T	uc002qrg.3	+	3	1686	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	ZNF135_uc002qre.3_Silent_p.L537L|ZNF135_uc002qrf.3_Silent_p.L495L|ZNF135_uc010yhq.2_Silent_p.L549L|ZNF135_uc010yhr.2_Silent_p.L358L|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TTGCTCCCCTCATTCAGCATC	0.547000														46			72		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70557456	70557456	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70557456C>T	uc002ezc.3	-	1	1	c.-10_splice	c.e1-1		COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTCGGCACTTCCGGTCCCGCG	0.582000														11			18		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509498	105509498	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105509498G>A	uc003yma.3	-	4	1409	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	LRP12_uc003ymb.3_Missense_Mutation_p.P409S|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	428	LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGAACGAGGATAACAGACA	0.413000														55			48		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76782179	76782179	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:76782179A>C	uc003pik.1	-	0	157	c.27T>G	c.(25-27)atT>atG	p.I9M		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	9					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAAAACAAAAATAGCTCTTC	0.299000														6			4		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507235	26507235	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26507235A>C	uc001bln.4	+	2	298	c.240A>C	c.(238-240)caA>caC	p.Q80H	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.Q80H|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	80	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACCTGCAAAGCCTGACAG	0.602000														37			3		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816380	67816380	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67816380T>G	uc001one.3	+	13	1718	c.1589T>G	c.(1588-1590)cTc>cGc	p.L530R	TCIRG1_uc001ong.3_Missense_Mutation_p.L314R|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	530					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TTGAGCTTCCTCAACTCCTTC	0.612000														116			33		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697073	111697073	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111697073G>A	uc003puy.4	-	12	2826	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	REV3L_uc003pux.4_Missense_Mutation_p.R751W|REV3L_uc003puz.4_Missense_Mutation_p.R751W	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	829					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTTTAACCGGGATGGTTTA	0.348000								DNA polymerases (catalytic subunits)						2			16		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713437	70713437	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70713437C>A	uc010ttg.2	-	0	1082	c.431G>T	c.(430-432)gGa>gTa	p.G144V						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACGACATATTCCTGCAATGTA	0.418000														77			57		1.3268e-25	1.33794e-25	1	1	0
GRID2	2895	broad.mit.edu	37	4	94693271	94693271	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:94693271T>G	uc011cdt.2	+	15	2904	c.2646T>G	c.(2644-2646)aaT>aaG	p.N882K	GRID2_uc011cdu.2_Missense_Mutation_p.N787K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	882					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GACGTGTAAATAGCTTGTGCA	0.438000														36			64		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924036	230924036	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:230924036A>T	uc002vqd.2	-	1	492	c.33T>A	c.(31-33)gaT>gaA	p.D11E	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D11E|SLC16A14_uc002vqf.3_Missense_Mutation_p.D11E	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	11						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATCTTCAAAATCATACCCAA	0.378000														21			4		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745609	19745609	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19745609G>A	uc002nnd.3	-	16	1996	c.1879C>T	c.(1879-1881)Ctt>Ttt	p.L627F	GMIP_uc010xrb.2_Missense_Mutation_p.L601F|GMIP_uc010xrc.2_Missense_Mutation_p.L598F	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	627	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCTCCTGAAGAAATCGCTTG	0.642000														56			58		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650072	51650072	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51650072C>T	uc002pvv.1	+	4	1158	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	SIGLEC7_uc002pvw.1_Silent_p.A270A|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	363					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GAGCCACAGCCCTGGTCTTCC	0.582000														108			20		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192169	211192169	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:211192169A>T	uc001hib.2	-	5	1158	c.988T>A	c.(988-990)Ttt>Att	p.F330I	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	330					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGATCAGCAAAACCAATCTTC	0.443000														68			67		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166795	140166795	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140166795A>C	uc003lhb.2	+	0	920	c.920A>C	c.(919-921)aAa>aCa	p.K307T	PCDHAC2_uc003lha.2_Missense_Mutation_p.K307T|PCDHAC2_uc003lgz.3_Missense_Mutation_p.K307T	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	322	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATTGATAAACTGGATTAT	0.358000														39			9		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7327114	7327114	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7327114C>T	uc003mxl.2	-	13	3028	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E635K|CAGE1_uc003mxj.3_Missense_Mutation_p.E588K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	771										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTCTATTTTCTTTAAAAAGA	0.328000														44			32		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728897	15728897	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15728897C>T	uc002nbi.3	+	2	349	c.285C>T	c.(283-285)atC>atT	p.I95I	CYP4F8_uc010xoi.1_Silent_p.I95I|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	95					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGGGCCCCATCACTCCCATCA	0.582000														74			70		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072302	63072302	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:63072302C>T	uc009yor.3	+	8	1747	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	513						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTATTGTCTTCCTCCTACCAG	0.448000														51			46		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723717	48723717	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48723717G>A	uc001rrm.3	+	0	955	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	215					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGCGGCAGACGAGGGGCGAGG	0.662000														22			12		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166963285	166963285	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:166963285C>T	uc001gdy.1	+	4	573	c.502C>T	c.(502-504)Cga>Tga	p.R168*	MAEL_uc021peh.1_Nonsense_Mutation_p.R112*|MAEL_uc001gdz.1_Nonsense_Mutation_p.R137*|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	168					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACGAGGATTTCGATTTCATTG	0.338000														11			12		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12274228	12274228	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:12274228C>T	uc002kqt.4	+	3	532	c.467C>T	c.(466-468)tCc>tTc	p.S156F	CIDEA_uc002kqu.4_Missense_Mutation_p.S190F|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	156					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGATGTACTCCGTGTCCTAC	0.582000														52			93		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5295004	5295004	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5295004C>T	uc010zqw.2	-	0	20	c.12G>A	c.(10-12)caG>caA	p.Q4Q	PROKR2_uc010zqx.2_Silent_p.Q4Q|PROKR2_uc010zqy.2_Silent_p.Q4Q|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	4						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGTTTCCATTCTGGGCTGCCA	0.522000										HNSCC(71;0.22)				30			31		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483976	43483977	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43483976_43483977CC>TT	uc003tid.1	+	10	1810_1811	c.1205_1206CC>TT	c.(1204-1206)ccc>cTT	p.P402L	HECW1_uc011kbi.1_Missense_Mutation_p.P402L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCAGTGTCCCCGATGGTCCAG	0.594000														34			20		0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23848683	23848683	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23848683G>A	uc010akm.3	+	6	1103	c.659_splice	c.e6-1	p.G220_splice	CMTM5_uc010akn.3_Splice_Site_p.G115_splice|CMTM5_uc001wju.3_Splice_Site_p.G102_splice|CMTM5_uc010ako.3_Splice_Site|CMTM5_uc001wjs.3_Splice_Site_p.G153_splice|CMTM5_uc001wjt.3_Splice_Site_p.G122_splice	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	220					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		ATCCTCACAGGGGACCAGCAG	0.632000														38			15		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005925	74005925	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74005925C>T	uc010wss.1	-	21	3655	c.3427G>A	c.(3427-3429)Gaa>Aaa	p.E1143K	EVPL_uc002jqi.2_Missense_Mutation_p.E1121K|EVPL_uc010wst.1_Missense_Mutation_p.E591K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1121	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGGTCTTCGATGCGAGCC	0.632000														1			50		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925170	70925170	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70925170A>G	uc021rvq.1	+	0	954	c.954A>G	c.(952-954)ccA>ccG	p.P318P	ADAM21_uc001xmd.3_Silent_p.P318P	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	318	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TATGTCGTCCACCTATTGATT	0.413000														156			17		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310465	24310465	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:24310465T>G	uc002nru.3	+	3	1797	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	ZNF254_uc010xrk.2_Missense_Mutation_p.F470V	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	555					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGCAAAGCCTTTAAGCAGTC	0.363000														19			5		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961046	133961046	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:133961046C>T	uc004caa.1	+	24	4264	c.4166C>T	c.(4165-4167)cCt>cTt	p.P1389L	LAMC3_uc010mze.1_Missense_Mutation_p.P77L	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1389	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AACGCGGCCCCTCTTTCCTCC	0.587000														21			23		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984696	51984696	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51984696G>A	uc002pwv.1	+	3	633	c.633G>A	c.(631-633)gaG>gaA	p.E211E		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	211						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCTGGTGGAGAACATGGATT	0.493000														30			24		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254664	61254664	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61254664C>T	uc001nru.2	+	10	1127	c.995C>T	c.(994-996)cCc>cTc	p.P332L	PPP1R32_uc009ynq.2_Missense_Mutation_p.P312L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	332																	GTCCGGAGCCCCTGTGATCCT	0.542000														99			86		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954858	32954858	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:32954858A>C	uc002ntg.3	+	13	1727	c.1529A>C	c.(1528-1530)aAg>aCg	p.K510T	DPY19L3_uc002nth.2_Missense_Mutation_p.K510T|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	510						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTACTTCTGAAGTCAGTCCAT	0.413000														104			23		0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26598211	26598211	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26598211A>G	uc003nii.3	+	1	351	c.311A>G	c.(310-312)gAc>gGc	p.D104G		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	104	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity	p.K103N(1)|p.D104Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TACACCAAGGACTACACCGAG	0.622000														56			5		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116660854	116660854	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116660854C>T	uc009yzg.3	-	1	1601	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.G364E|APOA5_uc009yzf.3_Missense_Mutation_p.G364E			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	364					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCAGGGGTCCCCCAGATGGCT	0.592000														1			16		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580531	53580531	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:53580531C>T	uc021onn.1	-	2	498	c.330G>A	c.(328-330)atG>atA	p.M110I	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Missense_Mutation_p.M110I|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Missense_Mutation_p.M110I|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	110						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TGATGGAGACCATGAAGATGC	0.617000														24			28		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693428	187693428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:187693428C>T	uc002upu.1	-	8	1225	c.1185G>A	c.(1183-1185)tgG>tgA	p.W395*		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	395					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGAATTTTTCCAAGTTAAAG	0.348000														6			11		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30909680	30909680	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30909680T>A	uc011acs.2	-	16	3098	c.2634A>T	c.(2632-2634)gaA>gaT	p.E878D	GRIK1_uc002ynn.3_Missense_Mutation_p.E863D|GRIK1_uc011act.2_Missense_Mutation_p.E739D	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTCCCAGTTCTTCCATGATAG	0.413000														12			14		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023458	28023458	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28023458G>A	uc001ity.4	-	4	990	c.765C>T	c.(763-765)agC>agT	p.S255S	MKX_uc001itx.4_Silent_p.S255S	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	255					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATTCATTGGAGCTAAAAGATC	0.423000														69			60		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8639324	8639324	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:8639324G>A	uc002wnb.3	+	8	838	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB1_uc010zrb.1_Missense_Mutation_p.E178K|PLCB1_uc002wna.3_Missense_Mutation_p.E279K|PLCB1_uc002wnc.1_Missense_Mutation_p.E178K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	279					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGAAGTATGAACCCAACAA	0.433000														75			49		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288595	107288595	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107288595C>T	uc011lvn.2	-	0	896	c.896G>A	c.(895-897)aGa>aAa	p.R299K		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCTTTATTTCTCAAGCTATA	0.383000														18			30		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216113	149216113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149216113C>T	uc003lrc.3	+	7	2186	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	PPARGC1B_uc003lrb.2_Nonsense_Mutation_p.R699*|PPARGC1B_uc003lrd.3_Nonsense_Mutation_p.R660*|PPARGC1B_uc021yfr.1_Nonsense_Mutation_p.R635*|PPARGC1B_uc003lre.1_Nonsense_Mutation_p.R678*|PPARGC1B_uc003lrf.3_Nonsense_Mutation_p.R678*	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	699					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGTGCTCCGACCAGAAGG	0.647000														25			18		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19679971	19679971	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:19679971T>G	uc022asn.1	+	4	594	c.463T>G	c.(463-465)Tta>Gta	p.L155V	INTS10_uc003wzj.3_Missense_Mutation_p.L155V	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	155					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGAGGCACTATTAGAGGCTGA	0.318000														42			8		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986368	129986368	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129986368C>T	uc010lmd.1	+	3	662	c.42C>T	c.(40-42)tcC>tcT	p.S14S	CPA5_uc003vps.2_Silent_p.S14S|CPA5_uc003vpt.2_Silent_p.S14S|CPA5_uc010lme.1_Silent_p.S14S|CPA5_uc003vpu.1_Silent_p.S14S	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	14					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGGGCCATCCCCCGTGGACA	0.632000														85			69		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567146	80567146	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:80567146G>A	uc022awk.1	+	3	711	c.329G>A	c.(328-330)aGg>aAg	p.R110K	STMN2_uc003ybj.3_Missense_Mutation_p.R110K|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	110					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GCAGAGAAGAGGGAACACGAG	0.448000														27			19		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238259811	238259811	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238259811G>A	uc002vwl.2	-	26	7063	c.6778C>T	c.(6778-6780)Cct>Tct	p.P2260S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2054S|COL6A3_uc010znj.1_Missense_Mutation_p.P1653S|COL6A3_uc002vwp.1_Missense_Mutation_p.P81S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2260	Collagen-like 4.|Triple-helical region.				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)		CGTTCTCCAGGAGCACCAGCG	0.572000														25			46		0	0	1	0	0
TUBA1C	84790	broad.mit.edu	37	12	49663313	49663313	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49663313C>T	uc010smh.1	+	1	307	c.279C>T	c.(277-279)ctC>ctT	p.L93L	TUBA1C_uc001rtt.1_Silent_p.L23L	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	Homo sapiens tubulin, alpha 1c (TUBA1C), mRNA.	23					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GCTGGGAGCTCTACTGCCTGG	0.542000														44			82		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072071	197072071	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197072071A>G	uc001gtu.3	-	17	6567	c.6310T>C	c.(6310-6312)Tat>Cat	p.Y2104H	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2104	IQ 16.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATACCTCTATAAACAGATTGG	0.318000														45			45		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40770580	40770580	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:40770580C>T	uc002xkg.3	-	17	2929	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	PTPRT_uc010ggj.3_Silent_p.K934K|PTPRT_uc010ggi.3_Silent_p.K118K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	915	Tyrosine-protein phosphatase 1.				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	p.E914K(2)		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)				CATATCGATTCTTATTGCGGT	0.483000														104			74		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3761494	3761494	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3761494A>T	uc001aky.2	-	5	902	c.543T>A	c.(541-543)ccT>ccA	p.P181P	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Silent_p.P181P	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	181						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTTCTAGAGCAGGGTCCTCGC	0.488000														78			5		0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204111573	204111573	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:204111573T>G	uc010zif.2	+	2	840	c.218T>G	c.(217-219)tTt>tGt	p.F73C	CYP20A1_uc002uzv.4_Missense_Mutation_p.F73C|CYP20A1_uc002uzx.4_Intron|CYP20A1_uc002uzy.4_Intron|CYP20A1_uc002uzw.4_Non-coding_Transcript	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	73						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TCCTTCTGGTTTGGCAGGCGC	0.423000														124			47		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091181	32091182	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32091181_32091182GG>AA	uc003jhl.3	+	19	8015_8016	c.7627_7628GG>AA	c.(7627-7629)gga>AAa	p.G2543K	PDZD2_uc003jhm.3_Missense_Mutation_p.G2543K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGTCCAGGAGGAAGTGGCCCT	0.579000														20			94		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744935	37744935	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37744935C>T	uc004aag.1	+	15	2950	c.2906C>T	c.(2905-2907)cCt>cTt	p.P969L	FRMPD1_uc004aah.1_Missense_Mutation_p.P969L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	969						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGCACTCCTCACTGTTCT	0.507000														52			87		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43890867	43890867	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43890867C>T	uc001cjk.2	+	17	2718	c.108C>T	c.(106-108)tcC>tcT	p.S36S	SZT2_uc009vws.1_Silent_p.S878S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	878						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCTACCTCCACCAAAGACA	0.572000														51			20		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185698039	185698039	+	Splice_Site	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:185698039T>A	uc003iww.2	-	6	871	c.577_splice	c.e6+1	p.A193_splice	ACSL1_uc011ckm.1_Splice_Site_p.A22_splice|ACSL1_uc003iwt.1_Splice_Site_p.A193_splice|ACSL1_uc003iwu.1_Splice_Site_p.A193_splice|ACSL1_uc011ckn.1_Splice_Site_p.A159_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	193					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAGACGTACCTTTGTTGACTA	0.373000														22			10		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7622017	7622017	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7622017G>A	uc021pmv.1	-	8	1225	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	ITIH5_uc021pmu.1_Silent_p.I159I|ITIH5_uc001ijr.2_Silent_p.I373I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	373	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGCCCCGTTGATGTCTGTGC	0.567000														7			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175305	140175305	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140175305A>G	uc003lhd.2	+	0	862	c.756A>G	c.(754-756)ttA>ttG	p.L252L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L252L|PCDHAC2_uc011czy.2_Silent_p.L252L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	267	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAATTGTTAGAGAATACGG	0.398000														41			22		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132799	154132799	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:154132799C>T	uc004fmt.3	-	17	5758	c.5587_splice	c.e17-1	p.E1863_splice	F8_uc010nvi.1_Splice_Site_p.E22_splice	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1863	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACATCTTTTTCCTAGGGAGGG	0.478000														21			15		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83835246	83835246	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:83835246C>T	uc011dyy.2	+	14	1746	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	DOPEY1_uc003pjs.1_Missense_Mutation_p.H505Y|DOPEY1_uc010kbl.1_Missense_Mutation_p.H496Y	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	505					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CCAGACAGAACACTTGCCCCA	0.363000														34			26		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813103	88813103	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88813103G>A	uc010iko.1	+	0	109	c.109G>A	c.(109-111)Gag>Aag	p.E37K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		TTCCAACGAGGAGATTTTCCT	0.463000														41			10		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207569647	207569647	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207569647C>T	uc002vbr.1	-	4	520	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	135						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGCTATTTTCTGCATAGAGT	0.383000														13			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583252	179583252	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179583252T>C	uc021vsy.1	-	81	21074	c.20849A>G	c.(20848-20850)tAc>tGc	p.Y6950C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y3611C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7877	Ig-like 51.						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)			TGTGCCAGTGTATGTGGCCTC	0.423000														10			22		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192142	152192142	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152192142C>T	uc001ezt.1	-	2	2039	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	655					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCAGAGCCCTGT	0.587000														298			13		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036849	47036851	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47036849_47036851GA>TT	uc003cqp.3	+	12	1803_1805	c.1624_1626GA>TT	c.(1624-1626)gga>TT	p.G542del	NBEAL2_uc003cqq.1_Missense_Mutation_p.G508del|NBEAL2_uc010hjm.2_Missense_Mutation_p.G103del	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	542							binding	p.G542R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCCCGGCCAGGATTGGACTCGG	0.645000														13			8		0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48321364	48321364	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48321364C>T	uc010nid.3	-	9	670	c.492_splice	c.e9-1	p.G164_splice	SLC38A5_uc004djk.4_Splice_Site_p.G113_splice	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	164					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AAGAACCAGTCCCTAGAGAGA	0.527000														0			3		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141240	167141240	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167141240G>A	uc010fpl.3	-	11	2038	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S437F|SCN9A_uc002uds.1_Missense_Mutation_p.S437F|SCN9A_uc002udt.1_Missense_Mutation_p.S437F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	566						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)	TTCAGTCTCAGATCCTATATC	0.502000														17			45		0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442015	20442015	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:20442015C>T	uc001bcz.3	-	2	294	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	PLA2G2D_uc009vpo.3_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	93					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATGTTCCCCTGGGAAAAG	0.567000										Multiple Myeloma(11;0.12)				67			40		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527972	155527972	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155527972G>A	uc003ioj.3	-	7	1155	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	FGG_uc003iog.3_Silent_p.F338F	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	338	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCCAGGTACTGAACTGCATGC	0.473000														65			28		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143029932	143029932	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143029932T>G	uc003wcr.1	+	11	1454	c.1367T>G	c.(1366-1368)gTt>gGt	p.V456G	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	456					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGGTCAACGTTGTCATCATC	0.488000														93			47		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397303	196397303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196397303C>T	uc001gtd.1	-	9	976	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.V306I|KCNT2_uc001gtf.1_Missense_Mutation_p.V306I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.V306I|KCNT2_uc009wyv.1_Missense_Mutation_p.V281I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	306						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTGAGCTGACACACAGGACG	0.393000														55			13		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680859	30680859	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30680859A>G	uc003nrg.4	-	4	1300	c.860T>C	c.(859-861)gTg>gCg	p.V287A	MDC1_uc003nrf.4_5'UTR|MDC1_uc011dmp.1_Missense_Mutation_p.V159A|MDC1_uc003nrh.1_Missense_Mutation_p.V159A|MDC1_uc003nri.2_Missense_Mutation_p.V287A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	287	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCCAGAATCACCCCAGCTGG	0.527000								Other conserved DNA damage response genes						123			11		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914294	31914294	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31914294C>T	uc003nyj.4	+	1	487	c.209C>T	c.(208-210)cCt>cTt	p.P70L	CFB_uc011dor.2_Missense_Mutation_p.P572L|CFB_uc011dos.1_Missense_Mutation_p.P70L|CFB_uc003nyi.2_Missense_Mutation_p.P70L	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	70	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.P70R(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACCCGTACCCTGTGCAGACA	0.572000														37			27		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826105	34826105	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34826105T>G	uc003oju.4	+	13	2206	c.1972T>G	c.(1972-1974)Ttt>Gtt	p.F658V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	658								p.F658F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCAGGTGGCTTTAGCCTTCT	0.483000														102			23		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768248	62768248	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62768248A>C	uc009yon.3	-	2	502	c.381T>G	c.(379-381)tcT>tcG	p.S127S	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Silent_p.S4S|SLC22A8_uc001nwo.3_Silent_p.S127S|SLC22A8_uc010rmm.2_Silent_p.S36S|SLC22A8_uc001nwp.2_Silent_p.S127S	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	127					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCATGAAGATAGACTGGGCCA	0.542000														21			23		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072453	34072453	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34072453C>T	uc002hjv.2	-	5	2091	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	688					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTTCCCGGTCCTGGGGTAAC	0.612000														12			158		0	0	1	0	0
ARMC7	79637	broad.mit.edu	37	17	73125007	73125007	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:73125007G>A	uc002jmw.1	+	2	773	c.471G>A	c.(469-471)cgG>cgA	p.R157R	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_Non-coding_Transcript	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	Homo sapiens armadillo repeat containing 7 (ARMC7), mRNA.	157							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CCAGGCTCCGGAACCTGGCAC	0.701000														0			27		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130883684	130883684	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:130883684G>A	uc001uil.2	-	18	3371	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	1052						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCTGATTAAGGTGTGAAATG	0.348000														1			44		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136418912	136418912	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136418912C>T	uc002tuo.3	+	17	2366	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y	R3HDM1_uc010fni.3_Missense_Mutation_p.H665Y|R3HDM1_uc002tup.3_Missense_Mutation_p.H611Y|R3HDM1_uc010zbh.2_Missense_Mutation_p.H414Y	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	666							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCCTTCTGTTCATTACAATTC	0.458000														57			17		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180246	117180246	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117180246C>T	uc003vjd.3	+	7	1094	c.962C>T	c.(961-963)tCt>tTt	p.S321F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	321	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGTTTTTATCTGTGCTTCCC	0.433000									Cystic Fibrosis					59			14		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74817635	74817635	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:74817635G>A	uc004air.3	+	2	570	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	GDA_uc011lse.2_Missense_Mutation_p.E47K|GDA_uc004aiq.3_Missense_Mutation_p.E121K|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.E47K|GDA_uc004ais.3_Missense_Mutation_p.E79K|GDA_uc004ait.1_Missense_Mutation_p.E47K	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	121					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.E121V(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CGACTTTGCAGAAGAAGTATA	0.408000														62			79		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5041445	5041445	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:5041445C>T	uc002gau.1	+	20	3185	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	USP6_uc002gav.1_Silent_p.L319L|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	319					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGGTGTGGCCTGTGGGCACG	0.547000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									3			87		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40064308	40064308	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:40064308C>T	uc003ayc.3	+	23	4116	c.4116C>T	c.(4114-4116)tcC>tcT	p.S1372S	CACNA1I_uc003ayd.3_Silent_p.S1337S|CACNA1I_uc003aye.3_Silent_p.S1287S|CACNA1I_uc003ayf.3_Silent_p.S1252S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1372					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTCTGATGTCCCTCTTTGTCC	0.577000														17			9		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16071378	16071378	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:16071378G>A	uc001mme.3	-	10	1430	c.1397C>T	c.(1396-1398)aCc>aTc	p.T466I	SOX6_uc001mmd.3_Missense_Mutation_p.T415I|SOX6_uc001mmf.3_Missense_Mutation_p.T412I|SOX6_uc001mmg.3_Missense_Mutation_p.T453I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	453					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GACAGGGCTGGTTTTGCTGGC	0.537000														131			103		0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828314	52828314	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52828314T>G	uc001ctq.2	-	2	325	c.174A>C	c.(172-174)gaA>gaC	p.E58D	CC2D1B_uc001cts.3_5'Flank	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	58										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TGGTTTGTGCTTCCCCTGTGA	0.587000														273			50		0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006024	118006024	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:118006024A>T	uc003ibv.4	-	0	713	c.526T>A	c.(526-528)Tgg>Agg	p.W176R		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	176	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GCATGAAACCAGTAAGCCAAC	0.418000														56			29		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216839	3216839	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3216839C>T	uc022aqr.1	-	20	3529	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	CSMD1_uc011kwj.2_Missense_Mutation_p.D440N|CSMD1_uc003wqe.3_Missense_Mutation_p.D204N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1048	Sushi 6.					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)		ACTCCAGGATCATCACATGGC	0.438000														40			21		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100406351	100406351	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100406351A>G	uc001ygr.3	+	22	2476	c.2407A>G	c.(2407-2409)Agc>Ggc	p.S803G	EML1_uc010tww.2_Missense_Mutation_p.S772G|EML1_uc001ygs.3_Missense_Mutation_p.S784G	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	784						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CGGCGGGCACAGCAGCCATGT	0.532000														47			10		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421727	31421727	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31421727C>T	uc010cap.1	+	10	1144	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	ITGAD_uc002ebv.1_Silent_p.F365F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	365					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCCTCTTCCTGGGGGCTG	0.577000														62			34		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16948225	16948225	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:16948225A>C	uc001ioo.3	-	49	7941	c.7889T>G	c.(7888-7890)tTt>tGt	p.F2630C	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_5'UTR	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2630	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGACATCAAATTGACAGTC	0.378000														61			5		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109524360	109524360	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:109524360G>A	uc010fjn.3	-	9	1562	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	EDAR_uc010yws.2_Missense_Mutation_p.H339Y|EDAR_uc002teq.4_Missense_Mutation_p.H307Y	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	307					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGCCAGGTGAACCAGCGAC	0.642000														61			22		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211649	124211649	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124211649G>A	uc003ehg.3	+	31	4873	c.4746G>A	c.(4744-4746)agG>agA	p.R1582R	KALRN_uc010hrv.1_Silent_p.R1573R|KALRN_uc003ehf.1_Silent_p.R1582R|KALRN_uc011bjy.1_Silent_p.R1573R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1582					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCAAGAAAGGATCATTCACC	0.478000														87			22		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291442	12291442	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:12291442A>G	uc001rah.4	-	15	3566	c.3424T>C	c.(3424-3426)Tcc>Ccc	p.S1142P	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.S1142P	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1142	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGATATTGGAGTCTTCTAAT	0.373000														80			24		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36937364	36937364	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36937364C>T	uc002xib.2	+	2	352	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	97					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CTTCCCAGTTCCCAGATAAGC	0.453000														64			53		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309073	21309073	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:21309073C>T	uc001iqk.3	-	2	576	c.222G>A	c.(220-222)ctG>ctA	p.L74L	NEBL_uc021pnu.1_Silent_p.L74L	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	738					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGCTGCTTCAGGCGAAGAT	0.413000														40			33		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34082451	34082451	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34082451G>A	uc021wco.1	+	23	3781	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	CEP250_uc010zve.2_Missense_Mutation_p.R413Q	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1045	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGTATAACCGAATTCAGAAG	0.537000														50			30		0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149467591	149467591	+	Missense_Mutation	SNP	G	A	A	rs144746785		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149467591G>A	uc003wgd.2	-	2	230	c.89C>T	c.(88-90)tCc>tTc	p.S30F	ZNF467_uc003wgc.3_Missense_Mutation_p.S30F	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATTATGGGATCCTTCCCT	0.552000														51			14		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26508325	26508325	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26508325C>T	uc002rgz.3	+	14	1526	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	HADHB_uc010ykv.2_Silent_p.S403S|HADHB_uc010ykw.2_Silent_p.S410S|HADHB_uc010ykx.2_Silent_p.S351S	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	425					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCTCTGTCCCTGGGACACC	0.498000														15			22		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123307950	123307951	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123307950_123307951CC>TT	uc001udc.3	+	11	2201_2202	c.2039_2040CC>TT	c.(2038-2040)acc>aTT	p.T680I	CCDC62_uc010tah.2_Intron|CCDC62_uc001ude.3_Missense_Mutation_p.T441I|CCDC62_uc021rfn.1_Intron	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	680						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CAAAAAAATACCTTTGTCAGTT	0.342000														7			28		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166167016	166167016	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:166167016C>T	uc002udc.3	+	6	1171	c.881C>T	c.(880-882)tCc>tTc	p.S294F	SCN2A_uc002udd.3_Missense_Mutation_p.S294F|SCN2A_uc002ude.3_Missense_Mutation_p.S294F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	294					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATATCACTTCCTTCTTTAAC	0.348000														35			10		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557431	214557431	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:214557431G>A	uc001hkk.2	-	12	2420	c.1767C>T	c.(1765-1767)taC>taT	p.Y589Y	PTPN14_uc021piy.1_Silent_p.Y353Y|PTPN14_uc010pty.2_Silent_p.Y490Y	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	589					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCGCTGACGTACTTGTGGC	0.637000														66			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723312	196723312	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196723312C>T	uc002utj.4	-	42	8054	c.7953G>A	c.(7951-7953)gcG>gcA	p.A2651A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2651	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CTTGTTCATTCGCTATTGTTT	0.423000														14			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682777	100682777	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100682777T>C	uc003uxp.1	+	2	8133	c.8080T>C	c.(8080-8082)Tta>Cta	p.L2694L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2694	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCACTCCATTAACAAATAT	0.498000														400			12		0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578049	48578049	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48578049A>G	uc001rrj.2	+	0	684	c.144A>G	c.(142-144)aaA>aaG	p.K48K		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	48						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						AGCACCTGAAAGCCCAGCTGC	0.662000														196			21		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797042	33797042	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33797042G>A	uc009vuh.1	-	11	2402	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	PHC2_uc001bxg.1_Missense_Mutation_p.P637L|PHC2_uc001bxh.1_Missense_Mutation_p.P609L|PHC2_uc001bxe.1_Missense_Mutation_p.P102L|PHC2_uc001bxf.1_Missense_Mutation_p.P52L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	637					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGTTTGAGGGGAGCACCCTC	0.537000														144			12		0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19968923	19968923	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:19968923G>A	uc004czp.3	-	6	1693	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	CXorf23_uc011mjg.2_Missense_Mutation_p.R130W|CXorf23_uc004czo.3_Missense_Mutation_p.R515W	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	565						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TTCTGTAACCGTTCTTTTCGC	0.383000														25			16		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492152	42492152	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42492152G>A	uc002osh.3	-	3	447	c.293C>T	c.(292-294)gCt>gTt	p.A98V	ATP1A3_uc010xwf.2_Missense_Mutation_p.A109V|ATP1A3_uc010xwg.2_Missense_Mutation_p.A68V|ATP1A3_uc002osg.3_Missense_Mutation_p.A98V|ATP1A3_uc010xwh.2_Missense_Mutation_p.A111V			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	98					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCAGAGGATAGCCCCGATCCA	0.642000														98			75		0	0	1	0	0
IGKV1-12	28940	broad.mit.edu	37	22	17385367	17385367	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:17385367G>A	uc011agg.1	-	0		c.29C>T								Homo sapiens isolate N1858K immunoglobulin kappa light chain variable region (IGKV1-12) mRNA, partial cds.																		TGCAGACAGGGAGGATGGAGA	0.443000														79			80		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581490	24581490	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24581490T>G	uc002dmh.3	+	16	4519	c.3479T>G	c.(3478-3480)tTt>tGt	p.F1160C	RBBP6_uc010vcb.1_Missense_Mutation_p.F1027C|RBBP6_uc002dmi.3_Missense_Mutation_p.F1126C|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.F993C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATAAAGATTTTGAGTCTTCT	0.343000														58			4		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153420075	153420075	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153420075C>T	uc004fjz.4	+	3	638	c.605C>T	c.(604-606)tCa>tTa	p.S202L		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	202					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAAGACTTCATGCGGCCCA	0.637000														78			35		0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44159684	44159684	+	Missense_Mutation	SNP	G	A	A	rs139338626	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44159684G>A	uc002oxf.2	-	4	740	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	PLAUR_uc002oxd.2_Missense_Mutation_p.L172F|PLAUR_uc002oxg.2_Intron	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	172	UPAR/Ly6 2.				C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCCGGGAAGGTAGCCACAG	0.572000														49			42		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277518	105277518	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105277518C>T	uc010npd.3	-	3	1456	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	SERPINA7_uc004eme.2_Silent_p.G407G	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	407					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCACAACTTTCCCTAGAAAGA	0.388000														7			108		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829681	106829681	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106829681G>A	uc021ser.1	-	518		c.15222C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTACTGATATGGTGACTCGAC	0.572000														254			5		0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28993231	28993231	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28993231C>T	uc010vdi.1	+	7	959	c.819C>T	c.(817-819)ttC>ttT	p.F273F	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Silent_p.F200F|SPNS1_uc002dsa.2_Silent_p.F273F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	273					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCTAGTTTCGTCCTGTCTT	0.597000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			23		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179744024	179744024	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179744024G>A	uc003mlw.1	-	10	1091	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	331					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGGCTGTTCGAAGATCTCCT	0.433000														52			35		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88893049	88893049	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88893049G>A	uc001xwq.3	+	6	1266	c.845_splice	c.e6+1	p.S282_splice	SPATA7_uc001xwr.3_Splice_Site_p.S250_splice|SPATA7_uc001xws.3_Splice_Site_p.S218_splice|SPATA7_uc001xwt.3_Splice_Site_p.S176_splice|SPATA7_uc001xwu.3_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	282					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CTGAATTAAGGTATGACACAT	0.348000														36			5		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404762	1404762	+	Silent	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:1404762C>A	uc010nct.2	+	4	490	c.168C>A	c.(166-168)acC>acA	p.T56T	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.T56T|CSF2RA_uc004cpq.2_Silent_p.T56T|CSF2RA_uc004cpn.2_Silent_p.T56T|CSF2RA_uc004cpo.2_Silent_p.T56T|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Silent_p.T56T|CSF2RA_uc010ncv.2_Silent_p.T56T|CSF2RA_uc004cpr.2_Silent_p.T56T	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	56						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAAACACAACCTTCAGCAAGT	0.483000														176			4		0.00024832	0.000248559	1	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130332638	130332638	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:130332638G>A	uc010scd.2	+	3	1505	c.1505G>A	c.(1504-1506)gGg>gAg	p.G502E		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	502	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGCCTCAAAGGGGCCTGCGTG	0.662000														52			26		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668385	176668385	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176668385C>T	uc001gkz.3	+	7	4060	c.2896C>T	c.(2896-2898)Ctc>Ttc	p.L966F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	966					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						AGCCGACACCCTCACCCTGTG	0.577000														93			85		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014738	83014738	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83014738C>G	uc003uhy.2	-	15	2368	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	SEMA3E_uc022agy.1_Missense_Mutation_p.D523H	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	583	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCAGTCTTATCCAAAGCATCC	0.363000														59			50		0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46620619	46620619	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46620619G>A	uc003cpv.3	+	1	454	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_Missense_Mutation_p.E8K	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	24					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TAAAGTCTTTGAACTGGGATT	0.378000														50			40		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3742419	3742419	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3742419A>G	uc001aky.2	-	17	2626	c.2267T>C	c.(2266-2268)tTt>tCt	p.F756S	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	756						centriole	binding	p.I755V(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCCCACAAAAAATACACAA	0.463000														86			12		0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914275	75914275	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:75914275C>T	uc003kem.3	-	1	442	c.257G>A	c.(256-258)gGg>gAg	p.G86E	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.G64E	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	86					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGTCAGGTACCCCATGGTAGC	0.478000														48			31		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545679	234545679	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234545679G>A	uc002vur.3	+	0	557	c.511G>A	c.(511-513)Gga>Aga	p.G171R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.G171R	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	174			Missing (in CN2).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.F171F(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTTCACCAGGGGAATATTTTG	0.448000														92			22		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783525	6783525	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6783525G>A	uc003wqt.3	-	0	74	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	11					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCCACGAGGAGAACAGCAG	0.592000														9			9		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451538	138451538	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:138451538C>T	uc003ihe.4	-	0	2092	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	PCDH18_uc003ihf.4_Missense_Mutation_p.E562K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E349K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	569	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGTCATTTTCGTCAATGATG	0.458000														48			73		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56390212	56390212	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56390212C>T	uc002qmd.4	+	8	3171	c.2749C>T	c.(2749-2751)Ctc>Ttc	p.L917F	NLRP4_uc002qmf.3_Missense_Mutation_p.L842F|NLRP4_uc010etf.3_Missense_Mutation_p.L692F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	917							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)		CGCGTCTGTTCTCACCTGCAG	0.547000														31			37		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137671947	137671947	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:137671947G>A	uc004cfe.3	+	28	2768	c.2386_splice	c.e28-1	p.G796_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	796	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CACCCGCACAGGGGGCCGATG	0.577000														36			63		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063826	76063826	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76063826G>A	uc001oxh.1	-	4	368	c.368C>T	c.(367-369)tCt>tTt	p.S123F	PRKRIR_uc021qnn.1_5'Flank|PRKRIR_uc010rrz.1_5'UTR	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	123					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.S123A(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCCTGCTCAGAAGTTTCATC	0.343000														9			11		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149243352	149243352	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149243352C>T	uc002twm.4	+	10	3884	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.L221L|MBD5_uc002twp.3_Silent_p.L13L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	963						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAACCATCAACTGACTCATCT	0.388000														7			14		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945904	17945904	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17945904A>C	uc002nhn.4	-	14	2135	c.2035T>G	c.(2035-2037)Tta>Gta	p.L679V	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.L679V	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	679	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCCAGGCTTAACACAGCGGGG	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									68			13		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227763	169227763	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:169227763T>C	uc003irp.3	-	4	665	c.373A>G	c.(373-375)Aga>Gga	p.R125G		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	125							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GATAAGCATCTCGAAAATGTT	0.388000														47			16		0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39140094	39140094	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39140094T>G	uc010cxh.1	-	2	593	c.432A>C	c.(430-432)gaA>gaC	p.E144D	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	144	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGGAGATCTTCAATGGTGT	0.463000														50			22		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21892142	21892142	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:21892142G>A	uc003svc.3	+	67	11006	c.10975G>A	c.(10975-10977)Gat>Aat	p.D3659N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3659	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTGGAAGACGATCTCCTTTT	0.428000									Kartagener syndrome					26			15		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171490	51171491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51171490_51171491CC>TT	uc002psx.1	-	21	3745_3746	c.3726_3727GG>AA	c.(3724-3729)agggag>agAAag	p.E1243K	SHANK1_uc002psw.1_Missense_Mutation_p.E627K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1243					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGCCCCCCTCCCTCCGGGCCG	0.792000														6			8		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36657659	36657659	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36657659G>A	uc003ape.3	+	5	527	c.253G>A	c.(253-255)Gag>Aag	p.E85K	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_5'UTR|APOL1_uc003apf.3_Missense_Mutation_p.E69K|APOL1_uc011amp.2_Missense_Mutation_p.E69K|APOL1_uc011amq.2_Missense_Mutation_p.E51K|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	69					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TATCTTTATTGAGGATGCCAT	0.433000														25			24		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613662	18613662	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18613662A>G	uc002znw.1	+	3	1478	c.1181A>G	c.(1180-1182)aAg>aGg	p.K394R	TUBA8_uc002znv.2_Missense_Mutation_p.K370R|TUBA8_uc021wkt.1_Missense_Mutation_p.K304R	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	370					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GACCTGGCCAAGGTGCAGCGG	0.642000														56			20		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171039	117171039	+	Silent	SNP	G	A	A	rs1800077	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117171039G>A	uc003vjd.3	+	3	492	c.360G>A	c.(358-360)gcG>gcA	p.A120A	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	120	ABC transmembrane type-1 1.		A -> T (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.I119M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTCTATCGCGATTTATCTAG	0.458000									Cystic Fibrosis					15			15		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100607563	100607563	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100607563G>A	uc001ygu.3	+	11	1228	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	EVL_uc001ygt.3_Missense_Mutation_p.D379N|EVL_uc001ygw.1_5'Flank	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	379	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGATGCCTTCGACTTGGACCG	0.637000														45			36		0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27059205	27059205	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27059205T>C	uc001isx.3	-	4	771	c.547A>G	c.(547-549)Agt>Ggt	p.S183G	ABI1_uc001itb.3_Missense_Mutation_p.S200G|ABI1_uc001ite.3_Missense_Mutation_p.S178G|ABI1_uc010qdh.2_Missense_Mutation_p.S178G|ABI1_uc010qdi.2_Missense_Mutation_p.S119G|ABI1_uc001itc.3_Missense_Mutation_p.S183G|ABI1_uc001isy.3_Missense_Mutation_p.S183G|ABI1_uc001itd.3_Missense_Mutation_p.S183G|ABI1_uc010qdj.2_Missense_Mutation_p.S183G|ABI1_uc001ita.3_Missense_Mutation_p.S183G|ABI1_uc010qdk.2_Missense_Mutation_p.S183G|ABI1_uc001isz.3_Missense_Mutation_p.S178G|ABI1_uc010qdg.2_Missense_Mutation_p.S49G	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	183					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGGAGGACTTGGCGGTTTC	0.403000														64			23		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534134	55534134	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55534134G>A	uc003xsd.1	+	1	756	c.608G>A	c.(607-609)gGa>gAa	p.G203E	RP1_uc011ldy.1_Missense_Mutation_p.G203E	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	203	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTACGGACGGAAGGAGGGTG	0.577000														88			61		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152823	8152823	+	Missense_Mutation	SNP	C	T	T	rs144478192		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8152823C>T	uc002mjf.3	-	51	6522	c.6505G>A	c.(6505-6507)Gaa>Aaa	p.E2169K	FBN3_uc002mje.3_Missense_Mutation_p.E8K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2169	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGAGCATTCGTCGATGTCT	0.667000														63			61		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356424	4356424	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4356424C>T	uc002fxt.3	+	7	1081	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	SPNS3_uc002fxu.3_Missense_Mutation_p.A219V	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	346					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCATCTGCGCCTCCAGCCTG	0.612000														168			45		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952512	54952512	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54952512C>T	uc003dhl.3	-	2	1146	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	338						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCAAATCGCTCTTTTTCTTCC	0.517000														78			106		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669509	95669509	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95669509A>C	uc001yef.2	-	8	2293	c.2177T>G	c.(2176-2178)cTc>cGc	p.L726R		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	726						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAAATAGAAGAGGTCGTGGGG	0.512000														42			14		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216252967	216252967	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:216252967T>A	uc002vfa.3	-	26	4576	c.4310A>T	c.(4309-4311)gAg>gTg	p.E1437V	FN1_uc002vfc.3_Missense_Mutation_p.E1346V|FN1_uc002vfe.3_Missense_Mutation_p.E1346V|FN1_uc002vff.3_Missense_Mutation_p.E1346V|FN1_uc002vfg.3_Missense_Mutation_p.E1346V|FN1_uc002vfh.3_Missense_Mutation_p.E1346V|FN1_uc002vfi.3_Missense_Mutation_p.E1437V|FN1_uc002vfj.3_Missense_Mutation_p.E1437V|FN1_uc002vfb.3_Missense_Mutation_p.E1346V|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Missense_Mutation_p.E64V	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1436	Cell-attachment.|Fibronectin type-III 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTGTGCTCTCATGTTGTTC	0.423000														43			20		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857790	90857790	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:90857790G>A	uc003hst.3	+	5	3030	c.2959G>A	c.(2959-2961)Gat>Aat	p.D987N	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.D729N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	987					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGTTGTATAGATCGATCGTT	0.358000														26			45		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103049955	103049955	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:103049955T>C	uc001phn.1	+	38	6484	c.6340T>C	c.(6340-6342)Ttt>Ctt	p.F2114L	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.F2114L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2114	AAA 2 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGAATGATCTTTCTTAGGTA	0.308000														27			12		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398037	37398037	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37398037T>A	uc003aqf.3	-	2	476	c.330A>T	c.(328-330)ggA>ggT	p.G110G	TEX33_uc003aqe.3_Silent_p.G25G	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	110																	GAGCCCCCTCTCCCGAGGTGG	0.637000														14			9		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360274	74360274	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:74360274A>C	uc011lsa.1	-	3	1234	c.694T>G	c.(694-696)Tta>Gta	p.L232V	TMEM2_uc010mos.2_Missense_Mutation_p.L232V|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	232	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCCCCATGTAACTCCAGTGTC	0.488000														88			9		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102609723	102609723	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:102609723A>C	uc022bky.1	+	7	2260	c.1492A>C	c.(1492-1494)Aac>Cac	p.N498H	NR4A3_uc004baf.1_Missense_Mutation_p.N487H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	487					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCCAGGTCAAACACTGCTGA	0.463000			T	EWSR1	extraskeletal myxoid chondrosarcoma									94			27		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770778	37770778	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37770778T>C	uc003asq.4	-	2	1583	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	ELFN2_uc021wph.1_Missense_Mutation_p.Q266R	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	266						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGCTCCCTCTGGGCGTCGGT	0.687000														66			8		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357470	40357470	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40357470G>A	uc002omp.4	-	33	15851	c.15843C>T	c.(15841-15843)gtC>gtT	p.V5281V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5281	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGATCTGGACTTCGGCAA	0.572000														53			25		0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21742415	21742415	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:21742415G>A	uc001unt.3	-	3	580	c.455C>T	c.(454-456)tCt>tTt	p.S152F	SKA3_uc001unu.3_Missense_Mutation_p.S152F|SKA3_uc001unv.3_Missense_Mutation_p.S70F	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	152					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.K151N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTACGTGGAGACTTCTCAGA	0.428000														45			42		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674660	4674660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4674660C>T	uc021qcq.1	+	0	904	c.904C>T	c.(904-906)Cga>Tga	p.R302*	OR51E1_uc001lzi.4_Nonsense_Mutation_p.R302*	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGAGATTCGACAGCGCAT	0.507000														62			59		0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149589826	149589826	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:149589826T>A	uc003exn.4	+	4	990	c.206T>A	c.(205-207)aTt>aAt	p.I69N	RNF13_uc003exp.4_Missense_Mutation_p.I69N|RNF13_uc010hvh.3_5'UTR	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	69	PA.				protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTTTTTTGATTAACTCAAAA	0.343000														32			4		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169308	8169308	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8169308T>G	uc002gkr.3	+	20	2815	c.2674T>G	c.(2674-2676)Ttc>Gtc	p.F892V	PFAS_uc010vuv.2_Missense_Mutation_p.F468V|PFAS_uc002gks.3_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	892					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGTGCGGGCCTTCAGCATCAC	0.637000														51			6		0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196921432	196921433	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196921432_196921433GG>AA	uc010ial.3	-	4	605_606	c.346_347CC>TT	c.(346-348)cct>TTt	p.P116F	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.P116F|DLG1_uc003fxn.4_Missense_Mutation_p.P116F|DLG1_uc011bue.2_Missense_Mutation_p.P116F|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.P116F	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	116					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCTTGAGGAGGTGTATCTTCA	0.356000														58			10		0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201756955	201756955	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201756955T>G	uc002uwp.2	+	0	1027	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	NIF3L1_uc002uwm.2_Missense_Mutation_p.F97V|NIF3L1_uc002uwl.2_Missense_Mutation_p.F70V|NIF3L1_uc002uwn.2_Missense_Mutation_p.F70V|NIF3L1_uc002uwq.2_Missense_Mutation_p.F97V	NM_021824	NP_068596	Q9GZT8	NIF3L_HUMAN	Homo sapiens NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) (NIF3L1), transcript variant 2, mRNA.	97					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TCCGCCTATCTTCCGACCCAT	0.517000														57			26		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612366	53612366	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53612366C>T	uc002qax.3	-	6	1425	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	ZNF415_uc010yds.2_Missense_Mutation_p.R311Q|ZNF415_uc010ydt.2_Missense_Mutation_p.R311Q|ZNF415_uc002qau.3_Missense_Mutation_p.R298Q|ZNF415_uc002qav.3_Missense_Mutation_p.R323Q|ZNF415_uc002qaw.3_Missense_Mutation_p.R311Q|ZNF415_uc002qay.3_Missense_Mutation_p.R298Q|ZNF415_uc002qaz.3_Missense_Mutation_p.R359Q|ZNF415_uc002qba.3_Missense_Mutation_p.R81Q			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GCATGAATTTCGACTGAAGAC	0.428000														51			21		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117892106	117892106	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117892106G>T	uc003pxu.3	-	5	1083	c.829C>A	c.(829-831)Cta>Ata	p.L277I	ROS1_uc003pxq.1_Missense_Mutation_p.L50I|ROS1_uc003pxv.3_Missense_Mutation_p.L269I	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				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)		CTTTTCTTTAGGGAATCTTGA	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									2			10		3.07112e-06	3.07851e-06	1	1	0
LIMS2	55679	broad.mit.edu	37	2	128415079	128415080	+	Missense_Mutation	DNP	GG	AA	AA	rs138668344		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128415079_128415080GG>AA	uc002tpa.3	-	1	234_235	c.68_69CC>TT	c.(67-69)tcc>tTT	p.S23F	LIMS2_uc002tox.3_Missense_Mutation_p.S47F|LIMS2_uc010fmb.3_5'UTR|LIMS2_uc002toy.3_Missense_Mutation_p.S18F|LIMS2_uc002toz.3_Missense_Mutation_p.S18F|LIMS2_uc010yzm.2_Missense_Mutation_p.S45F|LIMS2_uc002tpb.3_Missense_Mutation_p.S18F	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	23	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCTCGGCGGGGGAGAAGCGGGC	0.644000														44			60		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554171	28554171	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28554171G>A	uc003nlo.3	-	0	942	c.324C>T	c.(322-324)ctC>ctT	p.L108L	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	108	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCCAAGACTGGAGCTCCTCAG	0.527000														81			87		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3660959	3660959	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3660959T>A	uc001lyb.1	-	1	1093	c.700A>T	c.(700-702)Aga>Tga	p.R234*	ART5_uc001lyc.1_Nonsense_Mutation_p.R234*|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	234						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGAGAATCTGGTAACCAAA	0.512000														109			22		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884968	13884968	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:13884968G>A	uc002ksp.1	-	1	727	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	MC2R_uc021uhs.1_Silent_p.L184L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	184					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)	ACCAGCATCAGCGGGAACAGC	0.562000														36			55		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688695	137688695	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:137688695G>A	uc004cfe.3	+	36	3227	c.2845_splice	c.e36-1	p.G949_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	949	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGTTCCCAGGGACCCAATGGA	0.607000														27			11		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14960464	14960464	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:14960464A>C	uc002dcv.3	+	14	1788	c.1722A>C	c.(1720-1722)gaA>gaC	p.E574D		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	574						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGAGGTGGAAGTGCTGGAGG	0.507000														97			33		0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67770548	67770548	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67770548C>T	uc001omw.1	-	2	416	c.336G>A	c.(334-336)ctG>ctA	p.L112L		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	112					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGATGCCCATCAGCATTTTGC	0.602000														21			10		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703535	52703535	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52703535T>G	uc001cto.3	+	3	618	c.446T>G	c.(445-447)cTt>cGt	p.L149R	ZFYVE9_uc001ctn.3_Missense_Mutation_p.L149R|ZFYVE9_uc001ctp.3_Missense_Mutation_p.L149R	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	149					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGAATGTTCTTGTTGTAGCC	0.373000														63			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141720857	141720857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141720857C>T	uc003vwy.3	+	4	586	c.532C>T	c.(532-534)Cag>Tag	p.Q178*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	178					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCAGAATATCAGACATCTAA	0.353000														21			11		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549429	127549429	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127549429C>T	uc004bov.3	+	1	379	c.266C>T	c.(265-267)tCc>tTc	p.S89F	OLFML2A_uc010mwr.1_Missense_Mutation_p.S89F	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	89										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGCCGCTGCTCCTGTACCGCA	0.612000														16			29		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32798458	32798458	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32798458G>A	uc001utx.3	+	36	5348	c.4852G>A	c.(4852-4854)Gga>Aga	p.G1618R	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGTACTGGAGGATGCTGGGC	0.572000														36			35		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907539	12907539	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12907539C>T	uc010obf.2	-	1	830	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	LOC649330_uc009vno.2_Missense_Mutation_p.E202K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	202							nucleic acid binding|nucleotide binding										TCAATTTTTTCCAGGTTTTCC	0.423000														102			100		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090946	115090946	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:115090946A>G	uc001vuv.3	+	2	1961	c.1629A>G	c.(1627-1629)ccA>ccG	p.P543P	CHAMP1_uc010tko.2_Silent_p.P543P|CHAMP1_uc010ahb.3_Silent_p.P543P|CHAMP1_uc021rmx.1_Silent_p.P543P	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	543	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CTGCTTCTCCAGAAGCACGCA	0.527000														247			98		0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57840106	57840106	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:57840106T>G	uc003hck.3	-	1	1302	c.1227A>C	c.(1225-1227)aaA>aaC	p.K409N		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	409							GTP binding										GAGTTGAATCTTTTTTAAGTC	0.358000														47			6		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44488692	44488692	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44488692C>T	uc002zcu.2	-	3	488	c.243G>A	c.(241-243)ctG>ctA	p.L81L	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Silent_p.L81L|CBS_uc002zcw.3_Silent_p.L81L|CBS_uc002zcv.2_Silent_p.L81L	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	81					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGATTTTCTTCAGAATATCTG	0.453000														39			33		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87774494	87774494	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:87774494G>A	uc003ujn.3	+	15	1590	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	ADAM22_uc003ujk.2_Missense_Mutation_p.D459N|ADAM22_uc003ujl.2_Missense_Mutation_p.D459N|ADAM22_uc003ujm.3_Missense_Mutation_p.D459N|ADAM22_uc003ujo.3_Missense_Mutation_p.D459N|ADAM22_uc003ujp.1_Missense_Mutation_p.D511N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	459	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGAGTGTGATTGTGGAAC	0.418000														26			19		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59837684	59837684	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59837684C>T	uc001nom.3	+	6	751	c.623C>T	c.(622-624)tCc>tTc	p.S208F	MS4A3_uc001non.3_Missense_Mutation_p.S162F|MS4A3_uc001noo.3_Missense_Mutation_p.S85F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TAGGAAATTTCCTCACCTCCC	0.373000														23			10		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102442086	102442086	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102442086C>T	uc001yks.2	+	1	458	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	98	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAAAAGAATTCATTTCCTATA	0.284000														48			33		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132546749	132546749	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:132546749C>T	uc001ujn.3	+	45	8131	c.7979C>T	c.(7978-7980)tCc>tTc	p.S2660F	EP400_uc021rgq.1_Missense_Mutation_p.S2659F|EP400_uc001ujm.3_Missense_Mutation_p.S2579F|EP400_uc001ujp.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2696	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACCTGGTGTCCATGGCAACG	0.677000														4			28		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321017	152321017	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152321017A>G	uc002txm.3	+	29	5144	c.4983A>G	c.(4981-4983)gaA>gaG	p.E1661E	RIF1_uc002txn.3_Silent_p.E1661E|RIF1_uc002txl.3_Silent_p.E1661E|RIF1_uc002txo.3_Silent_p.E1661E|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1661					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATATGCAGAATATTCCTTTA	0.338000														29			9		0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580309	77580309	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77580309C>T	uc001xtd.3	+	3	1027	c.848C>T	c.(847-849)tCa>tTa	p.S283L	KIAA1737_uc001xtc.1_Missense_Mutation_p.S185L	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	283										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCTCCCCTTTCACCACTGTCC	0.562000														42			54		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580161	161580161	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161580161T>C	uc010jjc.3	+	10	1693	c.1335T>C	c.(1333-1335)ctT>ctC	p.L445L	GABRG2_uc003lyy.4_Silent_p.L405L|GABRG2_uc003lyz.4_Silent_p.L397L|GABRG2_uc011dej.2_Silent_p.L302L	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	397					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.I444M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTACACACCTTCAAGAGAGAG	0.483000														20			16		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807250	143807250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143807250G>A	uc011ktz.2	+	0	575	c.575G>A	c.(574-576)tGg>tAg	p.W192*		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W192L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCTGACACCTGGGTTAACCAA	0.517000														96			80		0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941176	37941176	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:37941176A>G	uc001cbb.4	+	1	229	c.79A>G	c.(79-81)Agc>Ggc	p.S27G	LOC728431_uc021olm.1_5'Flank	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	27					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGCCACAGCCGTCAGGG	0.627000														104			24		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049357	70049357	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70049357C>T	uc010kak.3	+	24	3696	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	BAI3_uc003pev.4_Silent_p.G1140G|BAI3_uc011dxx.2_Silent_p.G346G	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1140					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATTGCAAGGCTTTGTTATAG	0.423000														2			71		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030612	3030612	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3030612G>A	uc002fvc.1	-	0	234	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GCATCTTAGGGACTGTGGTGG	0.458000														5			57		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800546	74800546	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:74800546G>A	uc010rro.2	-	0	213	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CCAAGGTGGAGAGATTGATCA	0.522000														44			26		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953341	70953341	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:70953341C>T	uc001swb.4	-	15	3872	c.3842G>A	c.(3841-3843)tGg>tAg	p.W1281*	PTPRB_uc010sto.2_Nonsense_Mutation_p.W1191*|PTPRB_uc010stp.2_Nonsense_Mutation_p.W1191*|PTPRB_uc001swc.4_Nonsense_Mutation_p.W1499*|PTPRB_uc001swa.4_Nonsense_Mutation_p.W1411*|PTPRB_uc001swd.4_Nonsense_Mutation_p.W1498*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.W1378*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1281	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGCCCTTTCCACGTGATGGC	0.463000														64			97		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795451	42795451	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42795451C>T	uc002otf.1	+	9	2571	c.2531C>T	c.(2530-2532)cCa>cTa	p.P844L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	844	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCAGCACCAGCCCCTGGG	0.672000			"""Mis, F, S"""		oligodendroglioma									18			21		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158317991	158317991	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158317991G>A	uc003qqv.1	+	4	606	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	145					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAACAACTGGGACACTGCCTT	0.632000														28			28		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529248	13529248	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13529248G>A	uc001rbs.2	-	1	344	c.92C>T	c.(91-93)tCa>tTa	p.S31L						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.									p.S31L(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		agtggagcatgaagtgtcttc	0.488000														17			8		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637899	17637899	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:17637899A>C	uc003ncd.1	-	15	2149	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	NUP153_uc011dje.1_Missense_Mutation_p.I681S|NUP153_uc010jpl.1_Missense_Mutation_p.I608S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	650					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCCAAACCCAATTCCACTAGA	0.448000														189			10		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351367	72351367	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72351367T>C	uc002jkm.4	+	19	3051	c.2913T>C	c.(2911-2913)ggT>ggC	p.G971G		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	971					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						ACCCAGGTGGTGGTTCTCGAC	0.657000														48			8		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	675508	675508	+	Splice_Site	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:675508A>T	uc021szt.1	+	5	564	c.342_splice	c.e5+1	p.E114_splice	RAB40C_uc021szu.1_Splice_Site_p.E114_splice|RAB40C_uc021szv.1_Splice_Site_p.E114_splice|RAB40C_uc002chq.3_Splice_Site_p.E114_splice|RAB40C_uc002chr.3_Splice_Site_p.E114_splice	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	114					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GAGATCGATGAGGTAGGCCTG	0.637000														24			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307540	140307540	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140307540C>T	uc003lih.2	+	0	1239	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.P355S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	380	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCTGCCCCTGGCACAGT	0.522000														31			28		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219605244	219605244	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219605244G>A	uc002viy.3	+	5	1968	c.1598_splice	c.e5-1	p.G533_splice	TTLL4_uc010zkl.1_Splice_Site_p.G368_splice|TTLL4_uc010fvx.3_Splice_Site_p.G533_splice	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	533					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTTCCTCTAGGAGACTCAGAG	0.478000														34			38		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022789	6022789	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6022789T>G	uc002wmo.2	-	4	1326	c.1102A>C	c.(1102-1104)Acc>Ccc	p.T368P		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	368						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGAGAGTGGTGCTTTGGTCG	0.687000														61			31		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159785398	159785398	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159785398A>G	uc001fud.4	+	9	1294	c.1252A>G	c.(1252-1254)Aga>Gga	p.R418G	FCRL6_uc001fuc.2_3'UTR|FCRL6_uc009wsz.1_3'UTR|FCRL6_uc009wta.3_3'UTR	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	418						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGTGAATATGAGAAGCAGGAC	0.542000														67			6		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808128	82808128	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:82808128C>T	uc003kii.3	+	5	1311	c.955C>T	c.(955-957)Cta>Tta	p.L319L	VCAN_uc003kij.3_Silent_p.L319L|VCAN_uc010jau.2_Silent_p.L319L|VCAN_uc003kik.3_Silent_p.L319L|VCAN_uc003kih.4_Silent_p.L319L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	319	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAGGTGGTCTACTTGGGGT	0.557000														6			6		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586468	20586468	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20586468C>T	uc001vwo.1	+	0	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	273					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)		TAGATAAGTTCCTTGCTGTGT	0.398000														19			4		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805257	27805257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27805257G>A	uc002rkz.4	+	0	5869	c.5818G>A	c.(5818-5820)Gga>Aga	p.G1940R	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1940										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTTAAGGAGGGACTCAAGTA	0.537000														30			75		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919532	54919532	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54919532G>A	uc003dhf.3	+	22	2023	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D565N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D393N|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	659						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAACACTGACCTACACCC	0.458000														5			19		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1013258	1013258	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1013258G>A	uc002lqr.1	-	2	735	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.P197S	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	197						cytoplasm|integral to membrane		p.F196fs*20(1)|p.P197P(1)		breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCTCGGGGAAGGGGAAC	0.637000														44			35		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137321076	137321076	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137321076A>T	uc003lbz.2	-	9	1583	c.1049T>A	c.(1048-1050)aTt>aAt	p.I350N	FAM13B_uc003lcb.2_Missense_Mutation_p.I232N|FAM13B_uc003lca.2_Missense_Mutation_p.I350N	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	350					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGCAATATCAATCCTAGGGAT	0.323000														28			15		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19121011	19121011	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19121011G>A	uc002nkz.1	-	4	2053	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F	SUGP2_uc002nkx.2_Missense_Mutation_p.S664F|SUGP2_uc002nla.1_Missense_Mutation_p.S664F|SUGP2_uc002nlb.2_Missense_Mutation_p.S664F|SUGP2_uc010xqk.1_Missense_Mutation_p.S433F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	664					RNA splicing|mRNA processing	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						GACAGCCCGGGAGTACAGCAT	0.632000														82			85		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028123	170028123	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:170028123G>A	uc003isa.1	-	10	2708	c.2373C>T	c.(2371-2373)gcC>gcT	p.A791A		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	791						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AAGCATCCTGGGCCAGGGCTG	0.652000														35			12		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633451	70633451	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70633451G>A	uc001xly.3	-	1	2443	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	SLC8A3_uc001xlw.3_Silent_p.I563I|SLC8A3_uc001xlx.3_Silent_p.I563I|SLC8A3_uc001xlz.3_Silent_p.I563I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	563	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAAAGGGGACGATGACTGTAC	0.473000														37			38		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079749	104079749	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104079749G>A	uc004bbb.3	+	6	1315	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	LPPR1_uc011lvi.2_Missense_Mutation_p.E282K|LPPR1_uc004bbc.3_Missense_Mutation_p.E306K|LPPR1_uc010mtc.3_Missense_Mutation_p.E290K	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	306						integral to membrane	catalytic activity										CCCAAGGATAGAAAGCCCTCT	0.468000														48			28		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383782	31383782	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31383782C>T	uc002ebt.3	+	17	2311	c.2244C>T	c.(2242-2244)aaC>aaT	p.N748N	ITGAX_uc002ebu.1_Silent_p.N748N	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	748					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTTCAGAAACCTGCGGCCTA	0.647000														19			41		0	0	1	0	0
D28359	0	broad.mit.edu	37	13	52035376	52035376	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52035376C>T	uc001vfo.1	+	0		c.2281C>T								Homo sapiens cDNA FLJ34612 fis, clone KIDNE2014170, highly similar to 40S RIBOSOMAL PROTEIN S4, X ISOFORM.																		GATTTCTCTTCCCTGAGGAAA	0.458000														14			11		0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452352	203452352	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:203452352T>G	uc001gzs.3	+	1	240	c.40T>G	c.(40-42)Ttg>Gtg	p.L14V	PRELP_uc001gzt.3_Missense_Mutation_p.L14V	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	14					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTTCTCATCTTGGCCTCAGT	0.627000														139			9		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819255	12819255	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12819255A>C	uc001auh.3	+	2	454	c.238A>C	c.(238-240)Aaa>Caa	p.K80Q	C1orf158_uc010obe.1_Missense_Mutation_p.K80Q	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	80										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTTACAAACACCTGAT	0.582000														305			17		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1468579	1468579	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1468579A>C	uc002lsr.1	+	14	5487	c.5279A>C	c.(5278-5280)aAg>aCg	p.K1760T	APC2_uc002lss.1_Missense_Mutation_p.K1342T|APC2_uc002lst.1_Missense_Mutation_p.K1760T|APC2_uc002lsu.1_Missense_Mutation_p.K1759T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1760					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCAGTCAAGACCAGCGGG	0.682000														13			5		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54324655	54324655	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:54324655T>C	uc004dtc.2	-	6	1790	c.1351A>G	c.(1351-1353)Agt>Ggt	p.S451G	WNK3_uc004dtd.2_Missense_Mutation_p.S451G	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	451					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGTTGAAACTAAATTCAATA	0.353000														0			15		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130653540	130653540	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130653540C>T	uc011bli.2	+	3	707	c.411C>T	c.(409-411)gcC>gcT	p.A137A	ATP2C1_uc011blg.2_Silent_p.A137A|ATP2C1_uc011blh.2_Silent_p.A98A|ATP2C1_uc003enk.3_Silent_p.A87A|ATP2C1_uc003enl.3_Silent_p.A103A|ATP2C1_uc003enm.3_Silent_p.A103A|ATP2C1_uc003enn.3_Silent_p.A87A|ATP2C1_uc003eno.3_Silent_p.A103A|ATP2C1_uc003enp.3_Silent_p.A103A|ATP2C1_uc003ent.3_Silent_p.A103A|ATP2C1_uc003ens.3_Silent_p.A103A	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	103					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGATGATGCCGTCAGTATCA	0.313000									Hailey-Hailey disease					2			35		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026801	176026801	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176026801A>G	uc003meo.1	-	1	210	c.35T>C	c.(34-36)cTg>cCg	p.L12P	GPRIN1_uc021yif.1_Missense_Mutation_p.L12P	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	12						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTTGAAGCAGCTGGAGCCA	0.612000														17			12		0	0	1	0	0
RPS15	6209	broad.mit.edu	37	19	1440440	1440440	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1440440C>T	uc002lsp.1	+	3	479	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_001018	NP_001009	P62841	RS15_HUMAN	Homo sapiens ribosomal protein S15 (RPS15), mRNA.	139					endocrine pancreas development|rRNA processing|ribosomal small subunit export from nucleus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACTCCTCCCGCTTCATCC	0.612000														45			26		0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78076388	78076388	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:78076388A>C	uc003kfq.3	-	7	2720	c.1434T>G	c.(1432-1434)gaT>gaG	p.D478E		NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	478					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding	p.D478N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAGGGTCCCGATCAATATCAA	0.498000														20			8		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77785366	77785366	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:77785366A>T	uc021rks.1	-	22	3619	c.3352T>A	c.(3352-3354)Tca>Aca	p.S1118T	MYCBP2_uc010aev.3_Missense_Mutation_p.S484T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTGTTCTGAGTCATTAAAA	0.348000														36			5		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60887039	60887039	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:60887039T>C	uc009ynk.3	+	4	900	c.797T>C	c.(796-798)cTt>cCt	p.L266P		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	266	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTTGCCCTCCTTTGCTCAGGT	0.542000														33			12		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53005132	53005132	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53005132G>A	uc002pzp.4	+	3	278	c.34G>A	c.(34-36)Gga>Aga	p.G12R		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAAGAGGAAAGGAAAGGAGCC	0.393000														148			26		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979005	119979005	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119979005C>T	uc010inb.3	+	4	3898	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Silent_p.S1104S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	0						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAATCATGTCCATGGAAACCA	0.433000														43			25		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56572882	56572882	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56572882G>A	uc002qmj.3	+	14	3591	c.3591G>A	c.(3589-3591)tgG>tgA	p.W1197*	NLRP5_uc002qmi.3_Nonsense_Mutation_p.W1178*	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1197						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCGGTACTGGTGGAAAAACT	0.488000														50			96		0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13220455	13220455	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13220455A>T	uc002mwj.2	-	9	1470	c.1220T>A	c.(1219-1221)tTt>tAt	p.F407Y	TRMT1_uc010xmy.1_Missense_Mutation_p.F11Y|TRMT1_uc002mwk.2_Missense_Mutation_p.F378Y|TRMT1_uc002mwl.3_Missense_Mutation_p.F407Y|TRMT1_uc010xmz.1_Missense_Mutation_p.F193Y	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	407							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ACGGCCCACAAAATCCAGGTC	0.642000														62			5		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986424	129986424	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129986424G>A	uc010lmd.1	+	3	718	c.98G>A	c.(97-99)gGc>gAc	p.G33D	CPA5_uc003vps.2_Missense_Mutation_p.G33D|CPA5_uc003vpt.2_Missense_Mutation_p.G33D|CPA5_uc010lme.1_Missense_Mutation_p.G33D|CPA5_uc003vpu.1_Missense_Mutation_p.G33D	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	33					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCAGCTTTGGGCCAAATGAAT	0.652000														56			61		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281073	54281073	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:54281073A>G	uc003jpk.3	-	0	342	c.273T>C	c.(271-273)ccT>ccC	p.P91P	ESM1_uc010ivt.3_Silent_p.P91P	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	91	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CTTCACCAAAAGGATCCTCCC	0.567000														107			34		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972669	35972669	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35972669T>G	uc001byx.3	-	2	468	c.210A>C	c.(208-210)gaA>gaC	p.E70D	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.E70D	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	70	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAGGTGATTTTCTCCCCCAG	0.507000														192			5		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885185	88885185	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:88885185T>C	uc003ydz.3	-	0	1112	c.1015A>G	c.(1015-1017)Aga>Gga	p.R339G		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	339								p.T338M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCCAGATTCTCGTGTAGCAG	0.577000														86			6		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899472	94899472	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:94899472G>A	uc002btj.3	+	7	1177	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	MCTP2_uc010urg.1_Missense_Mutation_p.G371E|MCTP2_uc002bti.2_Missense_Mutation_p.G371E|MCTP2_uc010boj.3_Missense_Mutation_p.G100E|MCTP2_uc010bok.3_Missense_Mutation_p.G371E|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	371	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTCTCAGGAGGAAGCATGACA	0.393000														52			23		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947984	150947984	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150947984A>G	uc003lue.4	-	0	522	c.509T>C	c.(508-510)gTg>gCg	p.V170A	FAT2_uc010jhx.1_Missense_Mutation_p.V170A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	170	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCAGTCACCTTGCAGAT	0.522000														92			10		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416016	105416016	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105416016G>A	uc010axc.1	-	6	5892	c.5772C>T	c.(5770-5772)ccC>ccT	p.P1924P	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.P1824P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1924						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTGTCTGGGGGCCCTTGA	0.627000														180			159		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399579	40399579	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:40399579G>A	uc003oph.1	-	1	1739	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	425	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.R424W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAAGCACAGCCCGTTCCGG	0.632000														44			33		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926983	1926983	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1926983C>T	uc002qxe.3	-	9	1385	c.558G>A	c.(556-558)aaG>aaA	p.K186K	MYT1L_uc002qxd.3_Silent_p.K186K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	186					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E185Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTTATCATCCTTTTCTGTGT	0.373000														12			6		0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10539595	10539595	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10539595G>A	uc009zhj.3	-	2	232	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Missense_Mutation_p.H19Y|KLRK1_uc009zhk.3_Missense_Mutation_p.H19Y|KLRK1_uc001qyd.3_Missense_Mutation_p.H19Y	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	19					T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTATAATTATGAAATTCACTC	0.353000														10			7		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761731	130761731	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130761731C>T	uc003ysr.3	-	12	2136	c.1254G>A	c.(1252-1254)atG>atA	p.M418I		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	418						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCCTCTTCTCCATGGAACAGG	0.522000														31			31		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912638	67912638	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67912638A>C	uc002eur.3	+	11	1424	c.1185_splice	c.e11-2	p.R395_splice	EDC4_uc010cer.3_Splice_Site_p.R14_splice|EDC4_uc010vkg.1_Splice_Site_p.R327_splice|EDC4_uc002eus.3_Splice_Site_p.R125_splice	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	395					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGGCTCTCTAGCTTCTCCCC	0.557000														124			5		0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388020	50388020	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:50388020T>G	uc001rvt.2	-	13	1543	c.1233A>C	c.(1231-1233)aaA>aaC	p.K411N	RACGAP1_uc009zlm.1_Missense_Mutation_p.K411N|RACGAP1_uc001rvs.2_Missense_Mutation_p.K411N|RACGAP1_uc001rvu.2_Missense_Mutation_p.K411N	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	411	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TATCATCCACTTTGCTGAGGA	0.438000														34			26		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19363311	19363311	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:19363311T>C	uc002zpf.1	-	14	1838	c.1618A>G	c.(1618-1620)Aat>Gat	p.N540D	HIRA_uc011agx.1_Missense_Mutation_p.N406D|HIRA_uc010grn.1_Missense_Mutation_p.N540D|HIRA_uc010gro.2_Missense_Mutation_p.N496D|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	540	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GAGGTAGCATTCATACTGGGG	0.493000														28			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061851	9061851	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9061851G>A	uc002mkp.3	-	2	25799	c.25595C>T	c.(25594-25596)tCa>tTa	p.S8532L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8534	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGAGTGTGAAAATCCTGG	0.527000														32			39		0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405539	94405539	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94405539C>T	uc001ycd.3	-	7	1902	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	ASB2_uc001ycb.2_Missense_Mutation_p.G157D|ASB2_uc001ycc.2_Missense_Mutation_p.G463D|ASB2_uc001yce.1_Missense_Mutation_p.G409D	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	463					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGGGCCGTTGCCGTAGAGGCA	0.692000														18			8		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603530	138603530	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138603530A>C	uc011kql.2	-	1	891	c.842T>G	c.(841-843)cTt>cGt	p.L281R	KIAA1549_uc011kqj.2_Missense_Mutation_p.L281R	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	281						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTTAAAAAAAGGGTGGTTTC	0.502000			O	BRAF	pilocytic astrocytoma									35			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542905	55542905	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55542905G>A	uc003xsd.1	+	3	6611	c.6463G>A	c.(6463-6465)Gat>Aat	p.D2155N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2155					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E2154K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAACAAGAAGATTTATAATT	0.318000														18			6		0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141923587	141923587	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:141923587A>G	uc003euq.2	-	3	513	c.361T>C	c.(361-363)Tta>Cta	p.L121L	GK5_uc010hus.2_Non-coding_Transcript|GK5_uc010hut.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	121					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACAGCTCTTAAGTCTTGCCAA	0.299000														81			12		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96429168	96429168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:96429168G>A	uc001ten.1	-	0	198	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	LTA4H_uc010suy.1_Intron|LTA4H_uc010suz.1_Intron|LTA4H_uc010sva.1_Non-coding_Transcript|TRNA_Asp_uc021rbz.1_5'Flank	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	44					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TCCTGAGACTGGACCGTGAGA	0.692000														0			11		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793355	160793355	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160793355A>C	uc001fwu.3	+	7	1649	c.1599A>C	c.(1597-1599)tcA>tcC	p.S533S	LY9_uc001fwv.3_Silent_p.S519S|LY9_uc001fww.3_Silent_p.S443S|LY9_uc001fwy.1_Silent_p.S331S|LY9_uc001fwz.3_Silent_p.S171S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	533					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)			CACCCACCTCAGACAGCAGCT	0.557000														37			13		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332183	123332183	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123332183T>G	uc003pzi.1	+	2	1312	c.443T>G	c.(442-444)aTt>aGt	p.I148S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	148	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAAGCCATGATTGAAGATCCT	0.413000														39			3		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665881	20665881	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20665881C>T	uc010tlb.2	+	0	387	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACACCAAGATCATCTCGTTCT	0.483000														23			6		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675712	73675712	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:73675712T>C	uc002sje.1	+	7	2166	c.2055T>C	c.(2053-2055)ggT>ggC	p.G685G	ALMS1_uc002sjf.1_Silent_p.G643G|ALMS1_uc002sjg.3_Silent_p.G73G|ALMS1_uc002sjh.1_Silent_p.G73G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	685	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGATGGTCATCTAACTG	0.507000														63			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802086	140802086	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140802086C>T	uc003lkq.2	+	0	1550	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.P431L|PCDHGC5_uc003lkp.2_Missense_Mutation_p.P431L	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	432	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGAAGCCCGCCTTTGTCT	0.468000														30			28		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976911	72976911	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:72976911G>A	uc001xna.4	+	13	1538	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	RGS6_uc021rvv.1_Missense_Mutation_p.E304K|RGS6_uc010ttn.2_Missense_Mutation_p.E339K|RGS6_uc021rvw.1_Missense_Mutation_p.E339K|RGS6_uc021rvx.1_Missense_Mutation_p.E339K|RGS6_uc021rvy.1_Missense_Mutation_p.E302K|RGS6_uc021rvz.1_Missense_Mutation_p.E302K|RGS6_uc001xmy.4_Missense_Mutation_p.E339K|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.E339K|RGS6_uc021rwa.1_Missense_Mutation_p.E302K|RGS6_uc021rwb.1_Missense_Mutation_p.E302K|RGS6_uc010ttp.1_Missense_Mutation_p.E270K|RGS6_uc021rwc.1_Missense_Mutation_p.E200K	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	339	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTCTTTCGATGAGATATTGAA	0.458000														93			90		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37900842	37900842	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:37900842G>A	uc002hsr.3	+	7	1113	c.838G>A	c.(838-840)Gag>Aag	p.E280K	GRB7_uc002hss.3_Missense_Mutation_p.E280K|GRB7_uc021twu.1_Missense_Mutation_p.E303K|GRB7_uc010cwc.3_Missense_Mutation_p.E280K|GRB7_uc002hst.3_Missense_Mutation_p.E280K	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	280	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATGTGAACGAGTCCAACGT	0.597000														3			11		0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34263819	34263819	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34263819A>C	uc002hkj.2	-	2	517	c.317T>G	c.(316-318)cTt>cGt	p.L106R	LYZL6_uc002hkk.2_Missense_Mutation_p.L106R	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	106					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTGCAAGAAGGTTGGGATT	0.582000														65			8		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731937	94731937	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:94731937C>T	uc021qow.1	+	0	1401	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	KDM4D_uc001pfe.3_Silent_p.L467L	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCTGACCCTCCAGACTCCAG	0.602000														2			36		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465934	160465934	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160465934T>G	uc001fwe.2	-	1	369	c.299A>C	c.(298-300)aAg>aCg	p.K100T	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.K100T|SLAMF6_uc010pjh.2_Missense_Mutation_p.K51T|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.K51T	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	100						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCTTCCATCTTCAGGTTGCT	0.468000														117			36		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201782368	201782368	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201782368A>G	uc021phi.1	+	27	5669	c.5322A>G	c.(5320-5322)ggA>ggG	p.G1774G	NAV1_uc001gwu.3_Silent_p.G1771G|NAV1_uc001gwx.3_Silent_p.G1380G	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1774					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TACAGGAAGGAGCCAAGGATG	0.478000														39			7		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541013	55541013	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55541013T>A	uc003xsd.1	+	3	4719	c.4571T>A	c.(4570-4572)aTt>aAt	p.I1524N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACGGTATAATTTATGAAATA	0.323000														16			17		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35694453	35694453	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35694453G>A	uc003jjo.3	+	12	2074	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	SPEF2_uc003jjq.4_Intron|SPEF2_uc003jjp.1_Intron	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	655			E -> G (in dbSNP:rs12332369).		nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAGAAGGTGAAACAATGCT	0.368000														13			10		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089906	10089906	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10089906C>T	uc002mmq.1	-	38	2862	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	926	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCACTTCTCCTGTCTTTCCC	0.607000														33			34		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56184283	56184283	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:56184283C>T	uc002lhj.4	-	8	6011	c.5797G>A	c.(5797-5799)Gcc>Acc	p.A1933T		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1933	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCGGAAGGCTTTGCGGTGA	0.562000														4			38		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968030	9968030	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9968030A>G	uc002mmp.3	-	3	517	c.489T>C	c.(487-489)atT>atC	p.I163I		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	163						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCTCCTCCTGAATGGCCGCCA	0.642000														59			15		0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105412204	105412204	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:105412204G>A	uc003hxg.3	-	0	264	c.249C>T	c.(247-249)atC>atT	p.I83I	AK094561_uc003hxh.1_Non-coding_Transcript|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	83					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.I83M(2)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CTGTCATGACGATGACCCCTG	0.577000														46			20		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403078	248403078	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248403078C>T	uc010pzh.2	+	0	848	c.848C>T	c.(847-849)cCt>cTt	p.P283L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTCTCACCCCTATGCTGAAC	0.438000														54			13		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805729	54805729	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:54805729C>T	uc003pck.3	+	4	2076	c.1960C>T	c.(1960-1962)Caa>Taa	p.Q654*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	654										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTAAAGAATCAACAGACTGA	0.333000														44			7		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150130	27150130	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27150130G>A	uc002rhu.4	+	3	588	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E144K|DPYSL5_uc021vev.1_Missense_Mutation_p.E144K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	144					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGAAAGCAGAAATGGAGAC	0.557000														9			5		0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37015009	37015009	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37015009A>C	uc003zzo.1	-	2	843	c.395T>G	c.(394-396)gTc>gGc	p.V132G	PAX5_uc011lqc.1_Missense_Mutation_p.V132G|PAX5_uc010mlr.1_Missense_Mutation_p.V132G|PAX5_uc011lpw.1_Missense_Mutation_p.V132G|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Missense_Mutation_p.V24G|PAX5_uc010mls.1_Missense_Mutation_p.V132G|PAX5_uc011lpz.1_Missense_Mutation_p.V132G|PAX5_uc011lqa.1_Missense_Mutation_p.V24G|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.V132G|PAX5_uc010mlp.1_Missense_Mutation_p.V132G|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_Non-coding_Transcript|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Non-coding_Transcript	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	132	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)|p.V132V(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GATGGAACTGACGCTAGGCAC	0.572000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									168			12		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77208904	77208904	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:77208904C>T	uc010xfg.2	+	3	1962	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	NFATC1_uc002lnc.1_Silent_p.S503S|NFATC1_uc010xff.1_Silent_p.S503S|NFATC1_uc002lnd.3_Silent_p.S503S|NFATC1_uc002lne.3_Silent_p.S31S|NFATC1_uc010xfh.2_Silent_p.S503S|NFATC1_uc010xfi.1_Silent_p.S490S|NFATC1_uc010xfj.2_Silent_p.S31S|NFATC1_uc002lnf.3_Silent_p.S490S|NFATC1_uc002lng.3_Silent_p.S490S|NFATC1_uc010xfk.2_Silent_p.S490S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	503	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGACCGTGTCCACCACCAGCC	0.647000														5			30		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149931402	149931402	+	Silent	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149931402C>A	uc003lsk.4	+	13	3016	c.2514C>A	c.(2512-2514)ccC>ccA	p.P838P	NDST1_uc011dcj.2_Silent_p.P781P	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	838	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAATATCCCGAGATGGACT	0.498000														18			12		4.36969e-10	4.39007e-10	1	1	0
MUC20	200958	broad.mit.edu	37	3	195453337	195453337	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195453337G>A	uc010hzo.3	+	2	1476	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MUC20_uc010hzp.3_Silent_p.T415T|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	621	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GCCGAGGGACGAACAGCACCT	0.617000														158			47		0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940951	185940951	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:185940951C>T	uc011ckq.2	+	2	438	c.438C>T	c.(436-438)taC>taT	p.Y146Y	HELT_uc011cko.2_Silent_p.Y61Y|HELT_uc003ixa.3_Silent_p.Y61Y|HELT_uc011ckp.1_Silent_p.Y5Y	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	146	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCGTTCAGTACCTGAGAGCAC	0.642000														19			4		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156348107	156348107	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156348107C>T	uc010pho.2	+	3	628	c.590C>T	c.(589-591)tCg>tTg	p.S197L	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.S128L|RHBG_uc009wrz.3_Missense_Mutation_p.S165L|RHBG_uc001for.3_Missense_Mutation_p.S167L	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	197					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.S197S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCGTCCTTTCGCGGGTTCTG	0.627000														108			98		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358333	16358333	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16358333G>A	uc001axu.3	+	15	1831	c.1751G>A	c.(1750-1752)aGc>aAc	p.S584N	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.S541N|CLCNKA_uc001axv.3_Missense_Mutation_p.S584N|CLCNKA_uc010oby.1_Intron|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	584	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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)	Niflumic Acid(DB04552)	CTGGTGGAGAGCACAGGTGCC	0.607000														36			38		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690808	38690808	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38690808G>A	uc021yzh.1	+	1	332	c.223G>A	c.(223-225)Gat>Aat	p.D75N	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTTCTTCCAGATGATCATGA	0.512000														30			33		0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41454341	41454341	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:41454341A>G	uc001cgk.4	+	4	1022	c.514A>G	c.(514-516)Aga>Gga	p.R172G	CTPS1_uc010ojo.2_Intron|CTPS1_uc010ojp.1_Missense_Mutation_p.R179G|CTPS1_uc001cgl.4_Missense_Mutation_p.R172G|CTPS1_uc010ojq.2_Missense_Mutation_p.R16G	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	172					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CAAGGTCAAAAGAGAGAACTT	0.448000														117			22		0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38003966	38003966	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38003966C>T	uc003xkv.1	-	4	571	c.307_splice	c.e4-1	p.D103_splice		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	103	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CCCCATTGTCCTGTCAGAGAA	0.542000														35			6		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133275	64133275	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:64133275G>A	uc003dmf.3	-	6	1477	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	297	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCGGGAGGAATGGCCGCC	0.577000														79			34		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012441	29012441	+	Missense_Mutation	SNP	C	T	T	rs55974987	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:29012441C>T	uc001usb.3	-	3	715	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FLT1_uc010aar.1_Missense_Mutation_p.E144K|FLT1_uc001usc.3_Missense_Mutation_p.E144K|FLT1_uc010tdp.1_Missense_Mutation_p.E144K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	144			E -> K (in dbSNP:rs55974987).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATAATTTCGGGGATTTCA	0.383000														11			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926429	106926429	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106926429C>T	uc021ser.1	-	325		c.11439G>A								Parts of antibodies, mostly variable regions.																		ACAGGAGAGTCTCAGGGACCC	0.567000														164			43		0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043851	7043852	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:7043851_7043852CC>TT	uc003gjv.2	-	0	877_878	c.814_815GG>AA	c.(814-816)ggc>AAc	p.G272N	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	272								p.R271Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GGCCTCTGCGCCCCGGTCAGCC	0.644000														10			52		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24533469	24533469	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24533469G>A	uc002rfe.2	-	5	703	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	ITSN2_uc002rff.2_Missense_Mutation_p.L149F|ITSN2_uc002rfg.3_Missense_Mutation_p.L149F|ITSN2_uc010eyd.2_Missense_Mutation_p.L149F	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	149					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGGAGGAAGGTTGGTCCCT	0.488000														43			13		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071598	240071598	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240071598C>T	uc021plc.1	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	CHRM3_uc001hyp.3_Missense_Mutation_p.P283S	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	283					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTTTGTCCACCCCACGGGCAG	0.507000														33			31		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238585	57238585	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57238585T>G	uc002elb.3	+	1	293	c.15T>G	c.(13-15)ggT>ggG	p.G5G	RSPRY1_uc002elc.3_Silent_p.G5G|RSPRY1_uc002eld.3_Silent_p.G5G|RSPRY1_uc002ele.1_Silent_p.G5G	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	5						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCGTCTTTGGTTGGGCCGTGT	0.458000														88			56		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795673	33795673	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:33795673C>T	uc002kzq.4	+	7	1553	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	510					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGACTGGAGCCCCATCAGCAG	0.582000														12			5		0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65325834	65325834	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:65325834G>A	uc001dbu.1	-	8	1537	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	JAK1_uc009wam.1_Missense_Mutation_p.P430S	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.P430fs*2(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACGATCAACGGGGGGGCCACG	0.542000			Mis		ALL									52			51		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:138452734G>A	uc003ihe.4	-	0	896	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_uc003ihf.4_Missense_Mutation_p.S163F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000														21			15		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4609034	4609034	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4609034G>A	uc010qyh.2	+	0	1014	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R331L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACAACTGCGGGAGAGAATA	0.473000														98			71		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183194	140183194	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140183194A>G	uc011czz.2	+	0	2412	c.2412A>G	c.(2410-2412)ttA>ttG	p.L804L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc011czy.2_Intron	NM_031497	NP_113685	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTTATTTATTCTTTCCAA	0.358000														18			6		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442859	10442859	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10442859G>C	uc010coi.3	-	12	1296	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L390V|MYH2_uc010coj.3_Missense_Mutation_p.L390V	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	390	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						AGACTCTGGAGGTAGGCCGCC	0.443000														3			85		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588242	118588242	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:118588242G>A	uc003pxx.4	+	3	763	c.562G>A	c.(562-564)Ggc>Agc	p.G188S		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	188					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCATTTCATCGGCATCGTTGT	0.532000														12			154		0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325381	48325381	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48325381A>G	uc010nid.3	-	4	391	c.213T>C	c.(211-213)taT>taC	p.Y71Y	SLC38A5_uc004djk.4_Silent_p.Y20Y	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	71					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GGGCCATGGCATAGGCCAGCC	0.622000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			3		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24164407	24164407	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:24164407G>A	uc003ccz.4	-	11	1874	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	THRB_uc010hfe.3_Missense_Mutation_p.P452S|THRB_uc003ccy.4_Missense_Mutation_p.P452S|THRB_uc003ccx.4_Missense_Mutation_p.P452S	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	452	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AACAAAGGGGGGAAGAGTTCT	0.498000														73			39		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671022	28671022	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28671022G>A	uc002kwl.4	-	3	897	c.443C>T	c.(442-444)tCc>tTc	p.S148F	DSC2_uc002kwk.4_Missense_Mutation_p.S148F	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	148	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGGACCCAAGGAGTTTTCTAG	0.403000														4			21		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831048	241831048	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241831048C>T	uc002wae.4	-	1	806	c.647G>A	c.(646-648)gGg>gAg	p.G216E	C2orf54_uc002wac.3_Missense_Mutation_p.G48E|C2orf54_uc002wad.3_Missense_Mutation_p.G67E	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	216										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTGCTGCACCCCCTCCAGGGC	0.657000														43			29		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140162	3140162	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3140162T>C	uc002ctv.1	-	4	1196	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	ZSCAN10_uc002cty.1_Missense_Mutation_p.T31A|ZSCAN10_uc002ctw.1_Missense_Mutation_p.T288A|ZSCAN10_uc002ctx.1_Missense_Mutation_p.T298A	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	370					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GAGGAGTGGGTCAGCAGGTGC	0.706000														61			25		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057121	95057121	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95057121A>G	uc001ydm.2	+	4	1136	c.926A>G	c.(925-927)gAg>gGg	p.E309G	SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	309					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTCCATTGAGGGCTCCTAT	0.522000														30			10		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62487036	62487036	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62487036T>C	uc002jei.3	-	3	944	c.846A>G	c.(844-846)gaA>gaG	p.E282E	POLG2_uc021ubq.1_Silent_p.E15E|POLG2_uc010deg.2_Silent_p.E282E	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	282					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTTTCCGGCCTTCTTCATCCT	0.373000														52			14		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868817	7868817	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7868817G>A	uc001qtf.3	+	2	429	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	117						cytoplasm|nucleus		p.K117K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAACAAACAAGGAGCCTAAGG	0.289000														9			5		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467334	85467334	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85467334C>T	uc002blg.3	+	11	1278	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	SLC28A1_uc010upd.1_Missense_Mutation_p.S281F|SLC28A1_uc010bnb.3_Missense_Mutation_p.S359F|SLC28A1_uc010upe.2_Missense_Mutation_p.S359F|SLC28A1_uc010upf.1_Missense_Mutation_p.S359F|SLC28A1_uc010upg.1_Missense_Mutation_p.S359F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	359					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTACATCTCCTTTGGGGTA	0.582000														46			28		0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9547591	9547591	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:9547591T>A	uc002qzj.3	-	5	695	c.518A>T	c.(517-519)cAg>cTg	p.Q173L	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Intron|ITGB1BP1_uc002qzl.3_Intron|ITGB1BP1_uc010yiy.2_Missense_Mutation_p.Q129L|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.Q173L	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	173	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTGTTGCACTGATAAACCCA	0.493000														25			14		0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832250	72832250	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72832250G>A	uc002jls.4	+	9	1077	c.915G>A	c.(913-915)agG>agA	p.R305R	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.R305R	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	305						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCTCACAAGGCTGGTGTTCC	0.597000														4			95		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348893	21348893	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:21348893A>T	uc002zto.3	+	14	1765	c.1662A>T	c.(1660-1662)gcA>gcT	p.A554A	LZTR1_uc002ztn.3_Silent_p.A513A|LZTR1_uc011ahy.2_Silent_p.A535A|LZTR1_uc010gsr.1_3'UTR	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	554					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACAAACTGGCACTGAGCTTCC	0.642000														42			35		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132071	59132071	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59132071T>G	uc010rks.2	+	0	140	c.140T>G	c.(139-141)aTt>aGt	p.I47S		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCTCCCTCATTGTTTTAATA	0.443000														151			60		0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44137312	44137312	+	Silent	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44137312C>G	uc001cjx.3	+	10	1666	c.1500C>G	c.(1498-1500)gtC>gtG	p.V500V	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	500					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GACGCCTTGTCTTCTCAGGCT	0.483000														78			22		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234402154	234402154	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234402154G>A	uc010zmr.2	-	23	2867	c.2867C>T	c.(2866-2868)cCc>cTc	p.P956L	USP40_uc010zms.1_Missense_Mutation_p.P54L|USP40_uc002vuo.1_Missense_Mutation_p.P120L	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	944					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTGTCCTGAGGGACCCTGAAG	0.498000														7			11		0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145601612	145601612	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145601612T>A	uc001eog.3	-	6	876	c.833A>T	c.(832-834)gAg>gTg	p.E278V	POLR3C_uc001eoh.3_Missense_Mutation_p.E265V|POLR3C_uc009wix.3_Missense_Mutation_p.E265V	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	265					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCGCACAATCTCGCTGCTTGT	0.448000														39			13		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487437	3487437	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3487437G>A	uc002cvd.3	-	3	446	c.262C>T	c.(262-264)Cct>Tct	p.P88S		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCTGGGTAAGGGACAAGGGGT	0.458000														47			25		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031895	79031895	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79031895C>T	uc003kgc.3	+	1	7379	c.7307C>T	c.(7306-7308)cCt>cTt	p.P2436L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2436						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGCAAAATCCTACTTCCTTG	0.348000														20			13		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152675941	152675941	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:152675941G>A	uc021zhb.1	-	64	11002	c.10779C>T	c.(10777-10779)ttC>ttT	p.F3593F	SYNE1_uc003qot.4_Silent_p.F3600F|SYNE1_uc003qou.4_Silent_p.F3593F|SYNE1_uc010kja.2_Silent_p.F298F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3593					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCACGTTATTGAACTGAGTTC	0.507000										HNSCC(10;0.0054)				4			57		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174229622	174229622	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:174229622C>T	uc002uic.1	+	5	930	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F	CDCA7_uc002uid.1_Missense_Mutation_p.L188F|CDCA7_uc010zej.1_Missense_Mutation_p.L223F|CDCA7_uc010zek.1_Missense_Mutation_p.L146F	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	188	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GTCCCGGATCCTCGGGTCCCT	0.552000														32			19		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599568	123599568	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123599568G>A	uc003vle.3	+	4	1514	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	SPAM1_uc011koa.1_Missense_Mutation_p.E15K|SPAM1_uc003vld.3_Missense_Mutation_p.E359K|SPAM1_uc022aks.1_Missense_Mutation_p.E359K|SPAM1_uc003vlf.4_Missense_Mutation_p.E359K|SPAM1_uc010lku.3_Missense_Mutation_p.E359K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	359					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAATTACATGGAGACTATACT	0.363000														26			15		0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	45994098	45994098	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45994098A>G	uc002imk.3	+	2	798	c.661A>G	c.(661-663)Aac>Gac	p.N221D	SP2_uc002iml.3_Missense_Mutation_p.N214D|BC038442_uc002imm.3_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	221					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAACCTTGTGAACGCCAGTGA	0.602000														46			16		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211496	59211496	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59211496C>T	uc001nnx.1	+	0	855	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATTGGTGATCCCCATGCTGA	0.483000														107			77		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306622	54306622	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:54306622G>A	uc021smr.1	+	0	1522	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	UNC13C_uc021sms.1_Missense_Mutation_p.D508N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	508					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCAGATTATGATAAAATCTC	0.388000														1			25		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423623	26423623	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26423623G>A	uc003abz.1	+	42	7933	c.7683G>A	c.(7681-7683)atG>atA	p.M2561I	MYO18B_uc003aca.1_Missense_Mutation_p.M2442I|MYO18B_uc010guy.1_Missense_Mutation_p.M2443I|MYO18B_uc010guz.1_Missense_Mutation_p.M2441I|MYO18B_uc011aka.1_Missense_Mutation_p.M1715I|MYO18B_uc011akb.1_Missense_Mutation_p.M2074I|MYO18B_uc010gva.1_Missense_Mutation_p.M544I|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2561						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGCATAATGAAGAAATACC	0.567000														17			3		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123113	12123113	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:12123113A>C	uc003nac.3	+	3	3264	c.3085A>C	c.(3085-3087)Aga>Cga	p.R1029R	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1029					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCCCAGATAAGAAAAAGGAG	0.493000														160			49		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176782	43176782	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43176782G>A	uc002yzn.1	-	1	425	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	126						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATGCCCACCGCCGTCTCGTG	0.617000														28			23		0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48830410	48830410	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:48830410T>G	uc001vbz.3	+	2	567	c.344T>G	c.(343-345)aTt>aGt	p.I115S		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	115					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.T114I(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TACCAGACAATTGAAGAAAAT	0.403000														41			7		0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004469	70004469	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:70004469G>A	uc001svc.3	-	0	474	c.150C>T	c.(148-150)tcC>tcT	p.S50S		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	50						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTCCCTGAAGGAGCACACGT	0.592000														64			10		0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41606594	41606594	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41606594A>G	uc002idw.3	-	11	1267	c.1139T>C	c.(1138-1140)cTc>cCc	p.L380P	ETV4_uc002idv.3_Missense_Mutation_p.L103P|ETV4_uc010wih.2_Missense_Mutation_p.L326P|ETV4_uc010czh.3_Missense_Mutation_p.L379P|ETV4_uc010wii.2_Missense_Mutation_p.L341P|ETV4_uc002idx.3_Missense_Mutation_p.L380P|ETV4_uc010wij.2_Missense_Mutation_p.L341P	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	380					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GATGCCCCAGAGCCTGGCGAC	0.517000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									80			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830063	61830063	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61830063C>T	uc001jky.3	-	36	10914	c.10576G>A	c.(10576-10578)Gaa>Aaa	p.E3526K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3526					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCAAATTCTTCATCTACTTTG	0.413000														25			34		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103474022	103474022	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103474022C>T	uc022ajr.1	-	2	595	c.435G>A	c.(433-435)tgG>tgA	p.W145*	RELN_uc022ajq.1_Nonsense_Mutation_p.W145*|RELN_uc010liz.3_Nonsense_Mutation_p.W145*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	145	Reelin.				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)		GTGGAGCAATCCAGATGAAAC	0.488000														34			18		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272907	52272907	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52272907T>G	uc002pxr.3	+	1	1041	c.996T>G	c.(994-996)acT>acG	p.T332T	FPR2_uc002pxs.4_Silent_p.T332T|FPR2_uc010epf.3_Silent_p.T332T|FPR2_uc021uyp.1_Silent_p.T332T	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	332					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T332N(2)|p.T332I(1)|p.P331T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAGCCCCAACTAATGACACGG	0.537000														89			7		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51125255	51125255	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:51125255T>C	uc001rwv.3	+	30	3901	c.3745T>C	c.(3745-3747)Ttc>Ctc	p.F1249L	DIP2B_uc009zlt.3_Missense_Mutation_p.F679L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1249						nucleus	catalytic activity|transcription factor binding	p.T1248T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGGGACACTTTCTGCTCCTA	0.483000														49			7		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095012	81095012	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81095012G>A	uc002fgc.4	-	3	1201	c.942C>T	c.(940-942)gaC>gaT	p.D314D	C16orf46_uc010chf.3_Silent_p.D314D|C16orf46_uc010vno.2_Silent_p.D41D	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	314										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGTTGCTGGGGTCTGGAGGGC	0.582000														2			44		0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137477930	137477930	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:137477930A>C	uc003qhl.3	-	3	560	c.259T>G	c.(259-261)Tct>Gct	p.S87A	IL22RA2_uc003qhn.3_Intron|IL22RA2_uc003qhm.3_Intron	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	87					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		aagttacaagaaatgtgctgc	0.443000														33			4		0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426537	137426537	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137426537G>A	uc011cyk.1	+	4	1121	c.885G>A	c.(883-885)caG>caA	p.Q295Q	WNT8A_uc011cyj.1_Silent_p.Q295Q|WNT8A_uc003lcd.1_Silent_p.Q277Q			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	277					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTGCCTACAGAACAGCCACA	0.547000														28			26		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52518642	52518642	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52518642C>T	uc003ded.4	+	13	1776	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	NISCH_uc003dee.4_Missense_Mutation_p.P37S|NISCH_uc003deg.1_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	548	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.P548S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGAGTCCATCCCTGCGGGACA	0.597000														38			49		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071745	9071745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9071745G>A	uc002mkp.3	-	2	15905	c.15701C>T	c.(15700-15702)tCc>tTc	p.S5234F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGGGGTGGAAATTTTGCT	0.478000														71			52		0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29536301	29536301	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29536301C>T	uc011akm.1	+	7	1259	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	KREMEN1_uc003ael.3_Silent_p.L385L|KREMEN1_uc011akn.2_Silent_p.L285L	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	400					Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CAACTCTCCTCATCCTCACAG	0.488000														75			27		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704769	48704769	+	Silent	SNP	G	A	A	rs150065311		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:48704769G>A	uc001zwx.2	-	64	8618	c.8223C>T	c.(8221-8223)atC>atT	p.I2741I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2741					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.N2740S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACCCACCTCGATATTGGAGG	0.493000														7			58		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218648	47218648	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47218648C>T	uc002ion.2	+	1	293	c.234C>T	c.(232-234)atC>atT	p.I78I	B4GALNT2_uc010wlt.1_5'UTR|B4GALNT2_uc010wlu.1_Silent_p.I18I	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	78					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTCATAATCCTGGTACTTG	0.433000														129			53		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96058137	96058137	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:96058137T>C	uc001kjk.3	+	24	5802	c.5168_splice	c.e24-1	p.S1723_splice	PLCE1_uc010qnx.2_Splice_Site_p.S1707_splice|PLCE1_uc001kjm.3_Splice_Site_p.S1415_splice|PLCE1_uc001kjp.3_Splice_Site_p.S81_splice	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1723	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGGGTTTAGGTTCCTGTGAAG	0.413000														4			44		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45110434	45110434	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45110434T>C	uc001clv.1	+	8	1551	c.1191T>C	c.(1189-1191)gaT>gaC	p.D397D	RNF220_uc001clw.1_Silent_p.D397D|RNF220_uc010okx.1_Silent_p.D158D|RNF220_uc010oky.1_Silent_p.D184D|RNF220_uc010okz.2_Silent_p.D139D|RNF220_uc001clx.2_Silent_p.D113D|RNF220_uc001cma.1_Silent_p.D76D	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	397					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGGATGTGGATGGGGATGACA	0.567000														73			17		0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564675	49564675	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49564675G>A	uc002pmf.4	-	1	716	c.580C>T	c.(580-582)Cga>Tga	p.R194*	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Nonsense_Mutation_p.R194*	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	194					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTGTCAATTCGAATCCATCGC	0.602000														33			22		0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866336	23866336	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:23866336T>A	uc002kvt.4	+	6	1952	c.1463T>A	c.(1462-1464)gTt>gAt	p.V488D	TAF4B_uc002kvu.4_Missense_Mutation_p.V488D|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	488					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAACCTGTTGTTTCTTCTGCT	0.488000														101			7		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43645997	43645997	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43645997C>T	uc011aev.2	+	1	366	c.292C>T	c.(292-294)Cct>Tct	p.P98S	ABCG1_uc002zam.3_Missense_Mutation_p.P65S|ABCG1_uc002zan.3_Missense_Mutation_p.P89S|ABCG1_uc002zao.3_Missense_Mutation_p.P84S|ABCG1_uc002zap.3_Missense_Mutation_p.P87S|ABCG1_uc002zaq.3_Missense_Mutation_p.P87S|ABCG1_uc002zar.3_Missense_Mutation_p.P98S	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	87	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTATTCGGTTCCTGAAGGACC	0.527000														108			30		0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15988024	15988024	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:15988024A>G	uc010obn.2	+	0	1661	c.1661A>G	c.(1660-1662)gAa>gGa	p.E554G		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	554					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAATATGAACCACCTACC	0.453000														215			52		0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001319	17001319	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17001319G>A	uc002nfa.3	+	1	1220	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGAGTTCAGGGACAAGGTGCG	0.667000														13			8		0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151149321	151149321	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151149321T>C	uc001exe.1	-	5	937	c.894A>G	c.(892-894)ccA>ccG	p.P298P	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	298					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTATAGGGCTGGACGATGGG	0.522000														70			10		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28228901	28228901	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28228901G>A	uc009xky.3	-	13	2120	c.2022C>T	c.(2020-2022)atC>atT	p.I674I	ARMC4_uc010qds.2_Silent_p.I199I|ARMC4_uc010qdt.2_Silent_p.I366I|ARMC4_uc001itz.3_Silent_p.I674I	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	674							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTTTTCAATGATCCTTTCTG	0.418000														44			11		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225729	9225729	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9225729T>C	uc001mhl.3	-	3	684	c.427A>G	c.(427-429)Agc>Ggc	p.S143G	DENND5A_uc010rbw.2_Missense_Mutation_p.S143G|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	143										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCTGCTTGCTAGTCACCTCT	0.512000														42			13		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188312	7188312	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:7188312A>T	uc003bqm.2	+	1	967	c.693A>T	c.(691-693)ggA>ggT	p.G231G	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.G231G|GRM7_uc003bql.2_Silent_p.G231G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	231					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	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|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)	GAAGTTATGGAGAGAAAGGTG	0.507000														29			13		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283416	33283416	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33283416G>A	uc003oeb.3	-	1	1430	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.I426I|ZBTB22_uc021ywm.1_Silent_p.I426I	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAAGACCAGGATCTGGTTGC	0.627000														101			81		0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31097483	31097483	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31097483G>A	uc002eaq.3	-	5	685	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	PRSS53_uc002ear.3_Silent_p.L23L	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	229	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						TCGAGGCACAGCACAGGGCCC	0.607000														20			25		0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155733	129155733	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:129155733T>A	uc003emh.1	-	2	930	c.754A>T	c.(754-756)Aag>Tag	p.K252*	MBD4_uc003emi.1_Nonsense_Mutation_p.K252*|MBD4_uc003emj.1_Nonsense_Mutation_p.K252*|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Nonsense_Mutation_p.K252*	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	252					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	p.R251M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						GAACAGCTCTTCCTACATCCT	0.368000								Base excision repair (BER), DNA glycosylases						149			6		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79917931	79917931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:79917931C>T	uc004akr.3	+	33	4173	c.3913C>T	c.(3913-3915)Cag>Tag	p.Q1305*	VPS13A_uc004akp.4_Nonsense_Mutation_p.Q1305*|VPS13A_uc004akq.4_Nonsense_Mutation_p.Q1305*|VPS13A_uc004aks.3_Nonsense_Mutation_p.Q1266*|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1305					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAGTGGTACCAGGAAGTTCC	0.358000														55			28		0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61769192	61769192	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:61769192A>T	uc002jbg.3	+	13	1763	c.1444A>T	c.(1444-1446)Agc>Tgc	p.S482C	MAP3K3_uc002jbe.3_Missense_Mutation_p.S513C|MAP3K3_uc002jbf.3_Missense_Mutation_p.S513C|MAP3K3_uc002jbh.3_Missense_Mutation_p.S509C|MAP3K3_uc010wpo.2_Missense_Mutation_p.S397C|MAP3K3_uc010wpp.2_Missense_Mutation_p.S478C	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	482	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTACCTGCACAGCAACATGAT	0.572000														135			12		0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17766155	17766155	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:17766155C>T	uc002grz.4	-	10	1249	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	TOM1L2_uc002gry.4_Silent_p.G314G|TOM1L2_uc010vwy.2_Silent_p.G311G|TOM1L2_uc010cpr.3_Silent_p.G319G|TOM1L2_uc010vwz.2_Silent_p.G216G|TOM1L2_uc010vxa.2_Silent_p.G266G|TOM1L2_uc002grv.4_Silent_p.G97G	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	364					intracellular protein transport	intracellular		p.L363L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CGCTCTCTGTCCCCAAGTCTG	0.537000														3			81		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496203	41496203	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41496203G>A	uc002yyq.1	-	19	4067	c.3615C>T	c.(3613-3615)gtC>gtT	p.V1205V	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1205	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGACACAAAGACCATGGAGG	0.562000														80			62		0	0	1	0	0
METTL9	51108	broad.mit.edu	37	16	21636421	21636421	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:21636421C>T	uc002dje.3	+	3	935	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	LOC23117_uc021tel.1_Intron|METTL9_uc002djf.3_Missense_Mutation_p.P246S	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	Homo sapiens methyltransferase like 9 (METTL9), transcript variant 1, mRNA.	246										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CCCCTTTCATCCCTATGTGGA	0.448000														17			26		0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27657095	27657095	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:27657095C>T	uc003xgg.3	+	9	1618	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	ESCO2_uc010luy.1_Non-coding_Transcript	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	512					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GGTCCAGAATCCCCAAGCTCT	0.443000									SC Phocomelia syndrome					45			44		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037837	105037837	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105037837A>C	uc001kws.3	+	0	918	c.869A>C	c.(868-870)aAg>aCg	p.K290T	BC040734_uc001kwr.3_5'Flank|INA_uc009xxj.3_Missense_Mutation_p.K290T	NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	290	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TACAAGTCCAAGTTTGCCAAC	0.647000														19			5		0	0	1	0	0
CBWD5	220869	broad.mit.edu	37	9	70182229	70182229	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:70182229G>A	uc004afw.3	-	2		c.1883C>T						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATTAATTACTGATATTCACTT	0.279000														5			9		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111439345	111439345	+	Missense_Mutation	SNP	G	A	A	rs150734121	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:111439345G>A	uc001dzw.3	+	6	665	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CD53_uc001dzx.3_Missense_Mutation_p.R165Q|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	165					signal transduction	integral to membrane|plasma membrane		p.R165Q(2)|p.R165*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCTCAGATCGAAAAGTGGAG	0.443000														50			40		0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110644065	110644065	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110644065C>T	uc010kdu.1	-	1	329	c.329G>A	c.(328-330)tGg>tAg	p.W110*	METTL24_uc003pub.2_5'UTR	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	110						extracellular region											ATCTATATGCCACCGGGGACC	0.532000														1			21		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020384	147020384	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147020384C>T	uc010jgo.1	-	7	1432	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	JAKMIP2_uc003loq.1_Silent_p.R428R|JAKMIP2_uc011dbx.1_Silent_p.R386R|JAKMIP2_uc003lor.1_Silent_p.R428R|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	428						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAACAGGCCTCTAAATGG	0.418000														23			20		0	0	1	0	0
DEFB127	140850	broad.mit.edu	37	20	138197	138197	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:138197C>T	uc002wcy.1	+	0	12	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	Homo sapiens defensin, beta 127 (DEFB127), mRNA.	4					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGGGGCTCTTCATGATCATTG	0.473000														42			60		0	0	1	0	0
COX8C	341947	broad.mit.edu	37	14	93814374	93814374	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93814374G>A	uc001ybt.1	+	2	205	c.127_splice	c.e2-1	p.E43_splice	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	43						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCTCTTCCAGGAAATGGCTGT	0.443000														28			21		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132198079	132198079	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:132198079A>G	uc003kxz.1	-	1	819	c.567T>C	c.(565-567)acT>acC	p.T189T	GDF9_uc011cxj.1_Silent_p.T101T	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	189					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTGCCGAGAGTCCTGCTAG	0.403000														33			28		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	T	T	rs17410906		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:3952899A>T	uc011bvu.2	-	2		c.209T>A			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		AGCACCGGGCATACTTGACTG	0.557000														34			13		0	0	1	0	0
LOC644936	644936	broad.mit.edu	37	5	79595928	79595928	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79595928T>C	uc010jai.3	-	0	370	c.229A>G	c.(229-231)Agc>Ggc	p.S77G						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		AGGGAGGAGCTGGAGCCCACC	0.537000														13			6		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538011	145538011	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145538011A>T	uc001eoa.3	+	21	2766	c.2690A>T	c.(2689-2691)gAg>gTg	p.E897V	ITGA10_uc010oyv.2_Missense_Mutation_p.E766V|ITGA10_uc009wiw.3_Missense_Mutation_p.E754V|ITGA10_uc010oyw.2_Missense_Mutation_p.E842V	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	897					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.E897Q(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAGAGTTTGAGTTTAGCTGC	0.532000														298			56		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4492304	4492304	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4492304G>A	uc002cwk.3	+	4	743	c.666G>A	c.(664-666)aaG>aaA	p.K222K	DNAJA3_uc002cwl.3_Silent_p.K222K|DNAJA3_uc010uxk.2_Silent_p.K69K	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	222					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding	p.A221T(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						AAGCTGCAAAGGGGGTCAACA	0.517000														29			37		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43014734	43014734	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43014734T>A	uc003otq.3	-	9	2613	c.2281A>T	c.(2281-2283)Aag>Tag	p.K761*	CUL7_uc010jyg.3_5'UTR|CUL7_uc011dvb.2_Nonsense_Mutation_p.K845*|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	761					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGGTGCTTTTCCAGGGCC	0.557000														149			39		0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44365293	44365293	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44365293C>T	uc001ckb.3	+	9	1022	c.845C>T	c.(844-846)gCc>gTc	p.A282V	ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Missense_Mutation_p.A228V|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Missense_Mutation_p.A213V|ST3GAL3_uc001ckd.3_Missense_Mutation_p.A267V|ST3GAL3_uc001cke.3_Missense_Mutation_p.A197V|ST3GAL3_uc001ckf.3_Missense_Mutation_p.A251V|ST3GAL3_uc001ckg.3_Missense_Mutation_p.A213V|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_Intron|ST3GAL3_uc001ckm.3_Intron|ST3GAL3_uc001ckn.3_Intron|ST3GAL3_uc001cko.3_Missense_Mutation_p.A197V|ST3GAL3_uc001ckp.3_Intron|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Intron|ST3GAL3_uc001ckr.3_Missense_Mutation_p.A166V|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Missense_Mutation_p.A213V|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Intron|ST3GAL3_uc001ckk.3_Missense_Mutation_p.A182V|ST3GAL3_uc009vwy.3_Missense_Mutation_p.A119V|ST3GAL3_uc001ckl.3_Intron	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	213					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCCGAGGGCGCCATGCAGCGG	0.552000														48			48		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17452410	17452410	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17452410G>A	uc001mnc.3	-	11	1894	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	ABCC8_uc010rcy.1_Silent_p.L589L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	590	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.P589L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGCAGGAACAGCGGTGTGACC	0.607000														81			87		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571519	37571519	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37571519A>C	uc002yvg.3	+	2	369	c.290A>C	c.(289-291)aAa>aCa	p.K97T	DOPEY2_uc011aeb.2_Missense_Mutation_p.K97T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	97					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGGGGACCAAATGGCTGGCC	0.458000														59			18		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086301	53086301	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53086301A>C	uc010ydn.2	+	4	1250	c.1187A>C	c.(1186-1188)gAa>gCa	p.E396A	ZNF701_uc002pzs.2_Missense_Mutation_p.E330A|ZNF701_uc021uyw.1_Missense_Mutation_p.E396A	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S395L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAATGTGAAGAATGTGACAAA	0.378000														122			22		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98975855	98975855	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:98975855C>T	uc011mrd.1	-	6		c.744G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		CCTGGATTTTCCAACTCCTGT	0.378000														0			5		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8093607	8093607	+	RNA	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:8093607A>T	uc011kwt.2	+	5		c.662A>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GCCATCTGCAAGATATGCCGC	0.587000														19			3		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116836410	116836411	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:116836410_116836411GG>AA	uc004bie.4	-	3	622_623	c.359_360CC>TT	c.(358-360)tcc>tTT	p.S120F	AMBP_uc011lxk.2_Missense_Mutation_p.S61F|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	120					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGACCACATAGGACTCCATGGT	0.495000														25			16		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382073	41382073	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41382073C>T	uc003jmm.1	-	1	769	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	223					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCAGTTTCTCGGGGTCTGTG	0.517000														74			15		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540667	55540667	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55540667G>A	uc003xsd.1	+	3	4373	c.4225G>A	c.(4225-4227)Gaa>Aaa	p.E1409K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1409					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAGAAGCAGAACTTGATAA	0.338000														33			23		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156921775	156921775	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156921775G>A	uc003lwz.3	-	14	1702	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	ADAM19_uc003lww.2_Silent_p.F274F|ADAM19_uc003lwy.3_Silent_p.F140F|ADAM19_uc011ddr.1_Silent_p.F472F	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	541	Cys-rich.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACCTTCTCGAAGCAGAGGT	0.522000														18			17		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391140	31391140	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31391140G>A	uc002ebt.3	+	24	2998	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	ITGAX_uc002ebu.1_Silent_p.L977L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	977					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTGGAGCTGAACCAGGAGG	0.592000														26			11		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430901	37430901	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:37430901G>A	uc021ppc.1	+	6	1007	c.908G>A	c.(907-909)aGg>aAg	p.R303K	ANKRD30A_uc001iza.1_Missense_Mutation_p.R303K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	359						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						GAAACACCTAGGGAAATTACG	0.443000														51			22		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114453519	114453519	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:114453519A>T	uc001ppc.3	-	2	502	c.321T>A	c.(319-321)ccT>ccA	p.P107P	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	107						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		ACGTATCTCGAGGGTTGAGGA	0.562000														70			5		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10664941	10664942	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10664941_10664942CC>TT	uc002moy.1	-	18	1824_1825	c.1815_1816GG>AA	c.(1813-1818)gcggaa>gcAAaa	p.E606K	KRI1_uc002mow.1_Missense_Mutation_p.E225K|KRI1_uc002mox.1_Missense_Mutation_p.E602K	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	606										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTGTGGCTTCCGCAGGTGTCT	0.614000														38			45		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464078	21464078	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21464078T>G	uc001vyo.3	+	10	1161	c.964T>G	c.(964-966)Ttg>Gtg	p.L322V	METTL17_uc001vym.3_Missense_Mutation_p.L322V|METTL17_uc001vyn.3_Missense_Mutation_p.L322V	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	322					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GAAGTCACCTTTGGACCCTCG	0.453000														73			3		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595994	52595994	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:52595994C>T	uc001jjj.3	-	5	632	c.444G>A	c.(442-444)aaG>aaA	p.K148K	A1CF_uc010qho.2_Silent_p.K156K|A1CF_uc010qhn.2_Silent_p.K156K|A1CF_uc009xov.3_Silent_p.K148K|A1CF_uc001jji.3_Silent_p.K148K|A1CF_uc001jjh.3_Silent_p.K156K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	148	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCTTCTCTCTTTTTGGTTT	0.453000														2			12		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480352	10480352	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:10480352C>T	uc003wtc.3	-	1	589	c.360G>A	c.(358-360)caG>caA	p.Q120Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	120					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTTTCTCTCCTGTGGCCGGC	0.627000														21			9		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749599	80749599	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:80749599T>G	uc001szd.3	+	45	5656	c.5650T>G	c.(5650-5652)Ttg>Gtg	p.L1884V	OTOGL_uc021rba.1_5'Flank|OTOGL_uc009zsg.2_5'Flank	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATACAAATGTTTGGAGAATGG	0.448000														55			13		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920619	43920619	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43920619C>T	uc002owk.3	+	6	918	c.357C>T	c.(355-357)atC>atT	p.I119I	TEX101_uc010xwo.2_Silent_p.I101I	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	101						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCGGCCTGATCGTGACCTCCT	0.527000														151			141		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55148445	55148445	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55148445G>A	uc010ooe.1	+	13	2822	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.R401Q|HEATR8_uc010ood.1_Missense_Mutation_p.R351Q|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.R833Q|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R35Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	833						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGGAGGGCCGGGCTTCCATC	0.627000														50			12		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42120003	42120003	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42120003G>A	uc003baz.1	+	6	815	c.790G>A	c.(790-792)Gat>Aat	p.D264N	bK250D10.C22.8_uc003bba.1_5'Flank|MEI1_uc003bay.3_Missense_Mutation_p.D264N|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	264							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGAACCAGGATGGACTGGG	0.458000														15			7		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587070	26587070	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:26587070C>T	uc001mqw.3	-	2	690	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.L112L|MUC15_uc001mqy.3_Silent_p.L139L	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	112						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTATGGATCAAGGGAGGGC	0.453000														54			47		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23222931	23222931	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23222931G>A	uc009vqj.1	+	8	1870	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	EPHB2_uc001bge.3_Silent_p.S576S|EPHB2_uc001bgf.3_Silent_p.S575S|EPHB2_uc010odu.2_Intron	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	575					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCTGACTCGGAGTACACGG	0.597000														47			13		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103440208	103440208	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103440208G>A	uc001vpq.4	-	7	1743	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	KDELC1_uc001vpr.4_Silent_p.F234F	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	453						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATAATAACAGAATATGTCAT	0.313000														32			20		0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028516	38028516	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38028516C>T	uc003atc.3	+	15	2190	c.1803C>T	c.(1801-1803)ccC>ccT	p.P601P	GGA1_uc003ate.3_Silent_p.P597P|GGA1_uc003atd.3_Silent_p.P514P|GGA1_uc003atf.3_Silent_p.P528P|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	601	GAE.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TTGCCAACCCCCAGAAGGTAA	0.627000														95			28		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716943	55716943	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55716943T>G	uc002qjq.3	-	3	443	c.370A>C	c.(370-372)Aac>Cac	p.N124H	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.N131H	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	124	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACTCTCAGGTTCCTCACTGGG	0.572000														100			6		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691512	53691512	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:53691512G>A	uc002ehp.3	-	12	1498	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	RPGRIP1L_uc002eho.4_Silent_p.S478S|RPGRIP1L_uc010vgy.2_Silent_p.S478S|RPGRIP1L_uc010cbx.3_Silent_p.S478S|RPGRIP1L_uc010vgz.1_Silent_p.S478S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	478					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCACTAAAAAGGAAAGGTCTC	0.308000														1			9		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609818	117609818	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117609818G>A	uc003pxp.1	-	42	7080	c.6881C>T	c.(6880-6882)tCc>tTc	p.S2294F	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2294					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)		AGATTCCTGGGAGCCTAGAGG	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									5			34		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29606708	29606708	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:29606708C>T	uc002rmy.3	-	4	2124	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	391	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCGATTCTTCCCTGGAGCAC	0.498000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					55			26		0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9446703	9446703	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9446703A>G	uc001mho.3	+	11	1371	c.1229A>G	c.(1228-1230)aAg>aGg	p.K410R		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	410					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTACTGCAAAAGACTATGGGA	0.348000														46			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064240	34064240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:34064240C>T	uc001zhi.3	+	62	9006	c.8936C>T	c.(8935-8937)tCc>tTc	p.S2979F	RYR3_uc010bar.3_Missense_Mutation_p.S2979F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2979					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCACCCATTCCCGAACGCAG	0.468000														2			15		0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118582580	118582580	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:118582580G>A	uc002tlh.1	+	8	1370	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	424	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGAAGAACCGAAAGAAGAAG	0.383000														34			18		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233841	84233841	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:84233841G>A	uc003pjz.3	+	1	921	c.681G>A	c.(679-681)gcG>gcA	p.A227A	PRSS35_uc010kbm.3_Silent_p.A227A|PRSS35_uc021zce.1_Silent_p.A227A	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGAGAGAGCGAAGGGTGGGA	0.542000														6			22		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120436814	120436814	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120436814A>G	uc001eij.3	-	0	2334	c.2146T>C	c.(2146-2148)Tta>Cta	p.L716L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	716					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTGGGTTTTAAGTGGTTTCCT	0.358000														58			14		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32138336	32138336	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32138336T>G	uc001btk.1	-	44	3330	c.2965A>C	c.(2965-2967)Aac>Cac	p.N989H	COL16A1_uc001btj.1_Missense_Mutation_p.N802H	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	989	Nonhelical region 3 (NC3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGGCGCAGTTGTCGAGGCCT	0.642000														146			23		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625809	140625809	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140625809C>T	uc003lje.3	+	0	663	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P221P(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTCCACCCCGATCTGGCA	0.592000														7			6		0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37872964	37872964	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37872964T>G	uc003ass.2	-	4	880	c.617A>C	c.(616-618)aAa>aCa	p.K206T	MFNG_uc011anj.2_Missense_Mutation_p.K192T|MFNG_uc011ani.2_Missense_Mutation_p.K84T	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	206					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAAAGCCAGTTTGCGATTGAT	0.622000														40			15		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916458	10916458	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10916458A>C	uc002yip.1	-	19	1556	c.1188T>G	c.(1186-1188)taT>taG	p.Y396*	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Nonsense_Mutation_p.Y378*|TPTE_uc002yir.1_Nonsense_Mutation_p.Y358*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Y258*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	396	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CTTGTGCAAAATATGCAACAT	0.338000														54			6		0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700666	44700666	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:44700666A>C	uc003cnq.3	+	3	1032	c.811A>C	c.(811-813)Atc>Ctc	p.I271L	ZNF35_uc003cnr.3_Missense_Mutation_p.I111L	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	271					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCATCAGAGAATCCACACTGG	0.438000														37			14		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56832009	56832009	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:56832009A>G	uc003hbi.3	+	7	1262	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	CEP135_uc003hbj.3_Missense_Mutation_p.E49G|CEP135_uc010igz.1_Missense_Mutation_p.E173G	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	343					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			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)					GCTGATAAAGAGCTTGGGGAA	0.373000														14			7		0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883809	51883809	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51883809G>A	uc002pwl.2	-	3	580	c.536C>T	c.(535-537)tCc>tTc	p.S179F	LIM2_uc002pwm.2_Missense_Mutation_p.S137F	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	137					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GTAGGACCAGGAAAAGCGCCA	0.637000														125			116		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135992	55135992	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55135992C>T	uc010rif.2	+	0	633	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTTGTATCCCTTATTGAAAC	0.413000														56			43		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818333	200818333	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200818333A>C	uc001gvl.3	+	11	2739	c.2469A>C	c.(2467-2469)aaA>aaC	p.K823N	CAMSAP2_uc001gvk.3_Missense_Mutation_p.K812N|CAMSAP2_uc001gvm.3_Missense_Mutation_p.K796N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	823						cytoplasm|microtubule	protein binding										AAGATGAGAAAGTATATACTG	0.433000														92			19		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341139	121341140	+	Missense_Mutation	DNP	CC	TT	TT	rs151216821	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121341139_121341140CC>TT	uc003eeg.2	+	2	1073_1074	c.863_864CC>TT	c.(862-864)gcc>gTT	p.A288V		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	288					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAGGGCTTGCCCCTTGGCAGG	0.485000														1			89		0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48865302	48865302	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:48865302G>A	uc001crr.2	-	6	697	c.501C>T	c.(499-501)taC>taT	p.Y167Y	SPATA6_uc001crs.2_Silent_p.Y167Y|SPATA6_uc010omv.2_Silent_p.Y153Y	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	167					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCCAAATGGTAAATAAATT	0.294000														25			23		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491652	128491652	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128491652C>T	uc003vnz.4	+	34	6021	c.5812C>T	c.(5812-5814)Ccg>Tcg	p.P1938S	FLNC_uc003voa.4_Missense_Mutation_p.P1905S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1938					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGCACATCCCGGGGAGCCC	0.577000														38			33		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74401639	74401639	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74401639G>A	uc002jrm.4	-	1	498	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	UBE2O_uc002jrn.4_Missense_Mutation_p.R145C	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	145							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ACCACAGAACGGTCCTCTAGT	0.562000														3			6		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129781440	129781440	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129781440A>G	uc021zfb.1	+	48	7068	c.6963A>G	c.(6961-6963)aaA>aaG	p.K2321K	LAMA2_uc003qbn.3_Silent_p.K2319K|LAMA2_uc003qbo.3_Silent_p.K2319K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2321	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCGAGAAAAAGAAGGTGACT	0.418000														28			28		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918878	144918878	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:144918878G>A	uc021ouh.1	-	9	1610	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.I436I|PDE4DIP_uc001elx.4_Silent_p.I502I|PDE4DIP_uc001emd.2_Silent_p.I436I|PDE4DIP_uc001emc.2_Silent_p.I436I|PDE4DIP_uc001emb.1_Silent_p.I599I|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	436					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTAGGTGCTGGATGTTTTGTT	0.428000			T	PDGFRB	MPD									527			137		0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95783666	95783666	+	Missense_Mutation	SNP	G	A	A	rs148958562	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95783666G>A	uc002sub.3	-	1	301	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Missense_Mutation_p.S28F	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	28					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTGTTTAGGGAACACTGCCT	0.358000														9			28		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574883	28574883	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:28574883C>T	uc003xgz.1	+	2	1900	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	436						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATCATTACCCCCGGGGACCCT	0.632000														32			38		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652376	234652376	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234652376C>T	uc002vuz.3	-	0	286	c.187G>A	c.(187-189)Gat>Aat	p.D63N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	63	J.				protein folding		heat shock protein binding|unfolded protein binding										TCATAGATATCGCGTTTCTTG	0.632000														142			75		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630334	32630334	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:32630334C>T	uc003zrg.1	-	0	5334	c.5244G>A	c.(5242-5244)gaG>gaA	p.E1748E		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1748					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGTTCCTTCCTCTTCATCTG	0.483000														58			91		0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216315	27216315	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27216315G>T	uc001bnd.1	-	0	555	c.273C>A	c.(271-273)aaC>aaA	p.N91K	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	91							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCCAGTCCAGGTTGGCTTCCA	0.687000														70			52		1.54043e-34	1.55462e-34	1	1	0
SUSD2	56241	broad.mit.edu	37	22	24580241	24580241	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24580241A>G	uc002zzn.1	+	3	621	c.577A>G	c.(577-579)Acc>Gcc	p.T193A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	193					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGACCATCACCATCGAACT	0.627000														33			5		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924289	226924289	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226924289G>A	uc010pvo.2	-	1	1211	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	ITPKB_uc001hqh.3_Missense_Mutation_p.P291S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	291							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCCAATGAGGGAGCTAGGCAG	0.597000														36			32		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25168014	25168015	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:25168014_25168015CC>TT	uc003xeg.3	+	12	1421_1422	c.1284_1285CC>TT	c.(1282-1287)gcccgg>gcTTgg	p.R429W	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R143W|DOCK5_uc003xei.3_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	429						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R429L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGCAATAGCCCGGAAGATGGG	0.465000														32			6		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227381561	227381561	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:227381561T>G	uc001hqr.3	-	4	1468	c.525A>C	c.(523-525)gaA>gaC	p.E175D	CDC42BPA_uc001hqs.3_Missense_Mutation_p.E175D|CDC42BPA_uc009xes.3_Missense_Mutation_p.E175D|CDC42BPA_uc010pvs.2_Missense_Mutation_p.E175D	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	175	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E175V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGCCATATCTTCAGGCAATC	0.368000														61			8		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147510860	147510860	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147510860G>A	uc003lox.2	+	30	3076	c.3003G>A	c.(3001-3003)agG>agA	p.R1001R	SPINK5_uc003loy.2_Silent_p.R1031R	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	1001	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R1001K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGCCCAGGATAGGTTATC	0.423000														54			40		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43292734	43292734	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:43292734A>G	uc003jnr.4	-	9	1522	c.1315T>C	c.(1315-1317)Tat>Cat	p.Y439H	HMGCS1_uc003jnp.4_Missense_Mutation_p.Y120H|HMGCS1_uc003jnq.4_Missense_Mutation_p.Y439H	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	439					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGGGGAATATAGTTGACTAAA	0.368000														75			15		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163029330	163029330	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163029330G>A	uc002ucd.3	-	24	2380	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	FAP_uc010fpc.3_Silent_p.F273F|FAP_uc010zct.2_Silent_p.F699F	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	724					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCATTGCCTGGAAATCCACTT	0.358000														10			21		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155640128	155640128	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155640128G>A	uc010pgi.2	-	6	1317	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	GON4L_uc021paz.1_Silent_p.F237F|GON4L_uc010pgg.2_Silent_p.F142F|GON4L_uc010pgh.2_Silent_p.F226F|GON4L_uc009wqt.3_Silent_p.F226F|GON4L_uc001flh.3_Silent_p.F375F|GON4L_uc001fll.3_Silent_p.F237F|GON4L_uc001flk.3_Silent_p.F226F|GON4L_uc001flm.3_Silent_p.F226F|GON4L_uc009wqu.3_Silent_p.F70F|GON4L_uc009wqv.3_Intron|GON4L_uc009wqw.3_Silent_p.F226F|GON4L_uc001flj.3_Silent_p.F237F|GON4L_uc001fli.3_Silent_p.F237F|GON4L_uc001flo.3_Silent_p.F171F|GON4L_uc001fln.3_Silent_p.F303F|GON4L_uc010pgj.2_Silent_p.F303F|GON4L_uc001flp.3_Silent_p.F237F|GON4L_uc009wqx.3_Silent_p.F375F|GON4L_uc010pgk.2_Intron	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	826					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGCCTTGGTGAAGAGGATCT	0.453000														35			37		0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775159	77775159	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77775159G>A	uc021qnu.1	+	0	232	c.232G>A	c.(232-234)Gag>Aag	p.E78K	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.E78K	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	78					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)			GCTGCCGCGGGAGGAGTGGCA	0.632000														63			53		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107179048	107179048	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107179048G>A	uc021ser.1	-	37		c.2290C>T								Parts of antibodies, mostly variable regions.																		AGAACCCAGAGAAGGTGCAGG	0.562000														64			24		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338642	19338642	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19338642T>C	uc002nlz.3	+	7	2312	c.2213T>C	c.(2212-2214)tTt>tCt	p.F738S	NCAN_uc010ecc.1_Missense_Mutation_p.F302S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	738					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCTGTAGGTTTTGTCCCCACT	0.577000														76			36		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825537	4825537	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4825537C>T	uc021qcs.1	-	0	74	c.74G>A	c.(73-75)aGt>aAt	p.S25N		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACTGGAAACTCTCCAGGCC	0.507000														20			16		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119247	38119247	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38119247A>C	uc003atr.3	+	6	955	c.684A>C	c.(682-684)gaA>gaC	p.E228D	TRIOBP_uc003atu.3_Missense_Mutation_p.E56D|TRIOBP_uc003atq.1_Missense_Mutation_p.E228D|TRIOBP_uc003ats.1_Missense_Mutation_p.E56D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	228					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCGGGGAGAAAGCGGGTTGT	0.647000														28			3		0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130074013	130074013	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130074013A>C	uc011mae.2	+	3	720	c.319_splice	c.e3+1	p.V107_splice	GARNL3_uc011mad.2_Splice_Site_p.V85_splice	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	107					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTTAGGACAAGGTAATTATG	0.398000														35			7		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278783	92278783	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92278783A>C	uc001xzu.4	-	2	365	c.174T>G	c.(172-174)acT>acG	p.T58T	TC2N_uc001xzt.4_Silent_p.T58T|TC2N_uc010auc.3_Silent_p.T58T|TC2N_uc001xzv.4_Silent_p.T58T	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	58						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)		AATAATCCTCAGTACAGCCAA	0.393000														37			9		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30058574	30058574	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:30058574T>G	uc001zcr.3	-	4	959	c.484A>C	c.(484-486)Agt>Cgt	p.S162R	TJP1_uc010azl.3_Missense_Mutation_p.S150R|TJP1_uc001zcq.3_Missense_Mutation_p.S166R|TJP1_uc001zcs.3_Missense_Mutation_p.S162R	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	162					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTCTCTCTACTTGCACTTCTA	0.498000														51			11		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901482	150901483	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150901482_150901483GG>AA	uc003lue.4	-	17	10684_10685	c.10671_10672CC>TT	c.(10669-10674)gaccga>gaTTga	p.R3558*	FAT2_uc003lud.4_Nonsense_Mutation_p.R251*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3558	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGGTCTCGGTCTGTGGCAT	0.579000														17			12		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585231	30585231	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30585231G>C	uc002wxe.3	+	2	1885	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	571						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTCCCAGGAGCTGCTGGA	0.592000														24			32		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065995	23065995	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23065995C>T	uc002wsv.3	-	0	983	c.835G>A	c.(835-837)Ggg>Agg	p.G279R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	279	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAGCCATCCCCCCCTTCAAAG	0.627000														112			84		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853511	182853511	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182853511C>T	uc003flh.4	-	4	1335	c.1111G>A	c.(1111-1113)Gga>Aga	p.G371R		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	371					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TTACCATTTCCAAAGTGGTCA	0.473000														253			40		0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149580	61149580	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:61149580T>C	uc002sam.1	+	10	1994	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G	REL_uc002san.1_Silent_p.G558G	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	590					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACAGTCATGGTTTTGTTCAAG	0.373000			A		Hodgkin Lymphoma									34			9		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645725	39645725	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39645725G>A	uc003xnj.3	-	8	763	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F	ADAM2_uc003xnk.3_Missense_Mutation_p.L211F|ADAM2_uc011lck.2_Missense_Mutation_p.L230F|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	230	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTATCCAAAGCTCCAATGAA	0.279000														51			11		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189925	70189925	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:70189925A>G	uc001opo.3	+	14	2073	c.1858A>G	c.(1858-1860)Agc>Ggc	p.S620G	PPFIA1_uc001opn.2_Missense_Mutation_p.S620G|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	620					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.S620S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCTATCGCCCAGCGGGCAGGC	0.552000														44			11		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851292	234851292	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234851292C>T	uc002vvh.3	+	5	639	c.599C>T	c.(598-600)aCc>aTc	p.T200I	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.T150I|TRPM8_uc002vvj.3_Missense_Mutation_p.T123I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	200						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGAGATAACACCATCAGCAGG	0.512000														40			66		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913326	77913327	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:77913326_77913327GG>AA	uc022bzi.1	-	0	591_592	c.591_592CC>TT	c.(589-594)gcccag>gcTTag	p.Q198*	ZCCHC5_uc004edc.1_Nonsense_Mutation_p.Q198*	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	198							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGGAATTCCTGGGCATTTGAAG	0.545000														17			14		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568158	7568158	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:7568158G>A	uc002cys.2	+	4	1025	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	RBFOX1_uc010buf.1_Missense_Mutation_p.E13K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E13K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E13K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E56K|RBFOX1_uc010uya.1_Missense_Mutation_p.E49K|RBFOX1_uc002cyv.1_Missense_Mutation_p.E13K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E13K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E33K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E33K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E33K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E33K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	13					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGGTAATCAGGAAGCAGCCGC	0.582000														166			141		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585958	7585958	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7585958G>A	uc003mxp.1	+	23	8742	c.8463G>A	c.(8461-8463)tcG>tcA	p.S2821S	DSP_uc003mxq.1_Silent_p.S2222S|DSP_uc021yle.1_Silent_p.S2378S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2821	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACATGTCTTCGGCTCCGGGGt	0.637000														84			83		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175151	57175151	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57175151C>T	uc010ygn.2	-	1	1643	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACTCGTAGGGCTTCTCCCCGG	0.662000														325			46		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594364	123594364	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123594364A>G	uc003vle.3	+	2	1179	c.740A>G	c.(739-741)gAt>gGt	p.D247G	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.D247G|SPAM1_uc022aks.1_Missense_Mutation_p.D247G|SPAM1_uc003vlf.4_Missense_Mutation_p.D247G|SPAM1_uc010lku.3_Missense_Mutation_p.D247G	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	247					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AAAAGAAATGATGATCTCAGC	0.398000														85			6		0	0	1	0	0
FAM210B	116151	broad.mit.edu	37	20	54941180	54941180	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54941180T>C	uc002xxc.3	+	2	495	c.416T>C	c.(415-417)gTa>gCa	p.V139A		NM_080821	NP_543011	Q96KR6	CT108_HUMAN	Homo sapiens family with sequence similarity 210, member B (FAM210B), mRNA.	139	DUF1279.					integral to membrane											GAGTCCCTGGTACAGTCAAAA	0.473000														49			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472238	179472238	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179472238T>G	uc021vsy.1	-	225	45698	c.45473A>C	c.(45472-45474)aAa>aCa	p.K15158T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K8853T|TTN_uc021vta.1_Missense_Mutation_p.K8786T|TTN_uc021vtb.1_Missense_Mutation_p.K8661T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16085	Fibronectin type-III 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTTCAGATTTGGTTCCAAC	0.453000														225			98		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904839	60904839	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60904839G>A	uc002ycq.3	-	31	4180	c.4113C>T	c.(4111-4113)ctC>ctT	p.L1371L	LAMA5_uc021wfw.1_Silent_p.L1371L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1371	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGCCAGAGCCACCGGC	0.627000														16			12		0	0	1	0	0
KIAA1609	57707	broad.mit.edu	37	16	84520383	84520383	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:84520383G>A	uc002fib.3	-	4	919	c.812C>T	c.(811-813)tCg>tTg	p.S271L	KIAA1609_uc010vod.2_Missense_Mutation_p.S244L	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	271	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						GAGCTCAGACGAAAAGAGCAG	0.597000														4			22		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360217	55360217	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55360217C>T	uc003pcn.3	-	8	1044	c.885_splice	c.e8+1	p.Q295_splice	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Splice_Site_p.Q265_splice|HMGCLL1_uc010jzx.3_Splice_Site_p.Q166_splice|HMGCLL1_uc011dxc.2_Splice_Site_p.Q233_splice|HMGCLL1_uc011dxd.2_Splice_Site_p.Q162_splice	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	295							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACAAAATACCTGAAGGGCCG	0.378000														33			14		0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650829	79650829	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79650829C>T	uc002kbf.3	-	0	126	c.27G>A	c.(25-27)ttG>ttA	p.L9L	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	9							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCCGCGGCTCAAGGCCCGCC	0.637000														25			14		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638796	32638796	+	Missense_Mutation	SNP	A	C	C	rs140343985		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:32638796A>C	uc002yow.1	-	4	965	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	TIAM1_uc011adk.1_Missense_Mutation_p.F165V|TIAM1_uc011adl.1_Missense_Mutation_p.F165V|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	165					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.S164R(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTTCTTAAAGCTCGCCGTC	0.507000														102			17		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11845685	11845685	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:11845685G>A	uc002gne.3	+	66	12794	c.12726G>A	c.(12724-12726)atG>atA	p.M4242I	DNAH9_uc010coo.3_Missense_Mutation_p.M3460I|DNAH9_uc002gnf.3_Missense_Mutation_p.M554I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4242					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M4242V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAACTGATGGCCAAAGTGG	0.522000														7			139		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496572	128496572	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128496572G>A	uc003vnz.4	+	44	7461	c.7252_splice	c.e44-1	p.E2418_splice	FLNC_uc003voa.4_Splice_Site_p.E2385_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2418	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCTTTGCAGGAGACGGGGCT	0.652000														54			47		0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18500331	18500331	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18500331A>C	uc001mop.1	+	7	1174	c.913A>C	c.(913-915)Aaa>Caa	p.K305Q	LDHAL6A_uc001moq.2_Missense_Mutation_p.K305Q	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	305					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding	p.K305Q(2)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	AGACCTCATAAAAGTAAAACT	0.393000														233			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208058	140208058	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140208058G>A	uc003lho.2	+	0	409	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.D128N|PCDHAC2_uc011dab.2_Missense_Mutation_p.D128N	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	143	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATTAACGACAACCCGCC	0.587000														74			51		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34877972	34877972	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34877972A>C	uc002yrz.3	-	19	2932	c.2621T>G	c.(2620-2622)tTt>tGt	p.F874C	GART_uc002yrx.3_Missense_Mutation_p.F874C|GART_uc010gmd.3_Missense_Mutation_p.F536C|GART_uc002yry.3_Missense_Mutation_p.F874C	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	874	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGCACTGTCAAATTCTACACG	0.338000														32			8		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202410312	202410312	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:202410312C>T	uc002uyf.3	-	10	1168	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	ALS2CR11_uc002uye.3_Silent_p.T372T|ALS2CR11_uc010fti.3_Silent_p.T372T|ALS2CR11_uc021vvc.1_Silent_p.T372T	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	372										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GATTACTTTTCGTGTTTTCAG	0.239000														22			7		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209534	71209534	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:71209534G>A	uc002ezr.3	-	4	643	c.492C>T	c.(490-492)atC>atT	p.I164I	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.I164I|HYDIN_uc010vmc.2_Silent_p.I181I|HYDIN_uc010vmd.2_Silent_p.I191I|HYDIN_uc002ezw.4_Silent_p.I181I	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	164										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGTAAAGAGGATTCGGAATA	0.433000														35			14		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943316	50943316	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50943316G>A	uc003blp.2	-	9	1383	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	LMF2_uc003blo.2_Missense_Mutation_p.S426F	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	451						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCCGTAGGAGTTGGCCAG	0.692000														13			10		0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3543546	3543547	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3543546_3543547CT>TC	uc002fwa.3	+	2	516_517	c.46_47CT>TC	c.(46-48)ctc>TCc	p.L16S	CTNS_uc002fwb.3_Missense_Mutation_p.L16S|CTNS_uc010ckj.3_Missense_Mutation_p.L16S|CTNS_uc010vrv.2_Intron|CTNS_uc010vrw.2_5'UTR	NM_001031681	NP_001026851	O60931	CTNS_HUMAN	Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 1, mRNA.	16					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCCCTGAAGCTCGTAGAGAAA	0.406000														155			21		0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45009485	45009485	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45009485A>C	uc002ila.3	+	3	329	c.256A>C	c.(256-258)Aac>Cac	p.N86H	GOSR2_uc010wkh.1_Missense_Mutation_p.N86H|GOSR2_uc002iky.3_Missense_Mutation_p.N86H|GOSR2_uc002ikz.3_Missense_Mutation_p.N86H	NM_004287	NP_004278	O14653	GOSR2_HUMAN	Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant A, mRNA.	86					ER to Golgi vesicle-mediated transport|cellular membrane fusion|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGCGCTCAGAAACTTCCAGCA	0.532000														93			41		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085442	17085442	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17085442G>A	uc010ock.2	-	9	1249	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCGAGGCGGGAGCGGGAGCA	0.607000														102			12		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299362	129299362	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:129299362G>A	uc001uhu.2	-	1	853	c.800C>T	c.(799-801)tCc>tTc	p.S267F	SLC15A4_uc001uhv.2_Non-coding_Transcript|AK001057_uc001uhw.3_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	267					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GGAACAGCAGGAATACGTCAG	0.483000														2			39		0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013454	149013454	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:149013454A>G	uc022cgq.1	+	0	408	c.408A>G	c.(406-408)gcA>gcG	p.A136A	MAGEA8_uc022cgo.1_Silent_p.A136A|MAGEA8_uc004fdw.2_Silent_p.A136A|MAGEA8_uc022cgp.1_Silent_p.A136A	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	136	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAAAGGCAGAAATGCTTG	0.453000														46			7		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499792	66499792	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:66499792C>T	uc004aee.1	+	0	602	c.602C>T	c.(601-603)tCg>tTg	p.S201L	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CTGTGCAAGTCGCGCAAGGAG	0.592000														63			7		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389780	232389780	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:232389780C>T	uc002vry.4	-	2	1365	c.1255G>A	c.(1255-1257)Gcg>Acg	p.A419T		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	419					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCTTGCTGCGCCTCTGGGCCA	0.637000														16			33		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123377163	123377163	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123377163C>T	uc003pzi.1	+	4	1757	c.888C>T	c.(886-888)tcC>tcT	p.S296S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	296					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CCCCAAAGTCCATGAAGAGGT	0.493000														1			12		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64210643	64210643	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:64210643C>T	uc002jfn.4	-	6	969	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	304	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CACTTCTTTTCCTTATTTTTG	0.398000														45			9		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060724	87060724	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87060724C>T	uc011lfy.2	-	2	1125	c.1125G>A	c.(1123-1125)agG>agA	p.R375R		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	375							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATTCTACTATCCTTAAGTTTC	0.438000														59			46		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166674	180166674	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180166674G>A	uc003mmf.1	-	0	385	c.385C>T	c.(385-387)Cca>Tca	p.P129S		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTGGAGTGGACGACAGACA	0.587000														6			9		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099258	44099258	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:44099258G>A	uc002rtq.3	+	6	1198	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	ABCG8_uc010yoa.2_Missense_Mutation_p.E370K	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	370					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGATCTTGACGAGGACACCTG	0.557000														73			28		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179241	38179241	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38179241C>T	uc002rqn.2	+	1	1009	c.883C>T	c.(883-885)Cca>Tca	p.P295S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TTGCTTTATCCCACCTCAAAG	0.378000														40			36		0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12805448	12805448	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12805448A>G	uc010dyx.2	-	2	608	c.608T>C	c.(607-609)cTg>cCg	p.L203P	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_Missense_Mutation_p.L213P	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	213							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGTCTTGATCAGAACCTGGTT	0.572000														34			10		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295589	45295589	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45295589C>T	uc010olf.2	-	6	939	c.927G>A	c.(925-927)gaG>gaA	p.E309E	PTCH2_uc021omv.1_Silent_p.E309E|PTCH2_uc010olg.2_Silent_p.E8E	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	309					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACCTCAGCAGCTCTCCTTGGG	0.577000									Basal Cell Nevus syndrome					16			26		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318792	21318792	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21318792C>T	uc021tss.1	+	2	508	c.138C>T	c.(136-138)ttC>ttT	p.F46F	KCNJ18_uc002gyv.1_Silent_p.F46F|KCNJ18_uc021tst.1_Silent_p.F46F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	46						integral to membrane	inward rectifier potassium channel activity										GCAACCGCTTCGTCAAGAAGA	0.607000														29			19		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508753	106508753	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:106508753C>T	uc003vdv.4	+	1	832	c.747C>T	c.(745-747)ttC>ttT	p.F249F	PIK3CG_uc003vdu.3_Silent_p.F249F|PIK3CG_uc003vdw.3_Silent_p.F249F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	249					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.F249I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAGCTTCTTCACCAAGATGG	0.552000														83			24		0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563556	228563556	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228563556A>C	uc002vpi.3	-	2	964	c.875T>G	c.(874-876)tTt>tGt	p.F292C	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.F288C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	292					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AACCTGGTTAAAACCTGCTGT	0.453000														34			18		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508321	167508321	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167508321C>T	uc003ffa.4	+	2	610	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SERPINI1_uc003ffb.4_Missense_Mutation_p.H138Y	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	138					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGCAGTAAATCATGTGGACTT	0.363000														32			56		0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760553	119760553	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:119760553A>C	uc022cdo.1	-	0	469	c.469T>G	c.(469-471)Ttt>Gtt	p.F157V	C1GALT1C1_uc004esy.3_Missense_Mutation_p.F157V|C1GALT1C1_uc004esz.3_Missense_Mutation_p.F157V	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	157						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TTTAACAAAAAATACTTTAGG	0.378000														41			4		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269632	1269632	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1269632C>T	uc001lta.3	+	30	11581	c.11522C>T	c.(11521-11523)gCc>gTc	p.A3841V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3841	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCACGGCCACCACAACC	0.627000														128			54		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415790	86415790	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:86415790G>A	uc003uid.3	+	2	1781	c.682G>A	c.(682-684)Gag>Aag	p.E228K	GRM3_uc010lef.3_Missense_Mutation_p.E226K|GRM3_uc010leg.3_Missense_Mutation_p.E100K|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	228					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACAGGGATCGAGGCCTTCGA	0.602000														46			25		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804506	157804506	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157804506C>T	uc001frk.4	-	3	552	c.409G>A	c.(409-411)Ggt>Agt	p.G137S		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	137					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCCTGACACCCTCTGGGACT	0.592000														53			31		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187924	152187924	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152187924C>T	uc001ezt.1	-	2	6257	c.6181G>A	c.(6181-6183)Gga>Aga	p.G2061R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2061					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCAGAGCCCTGT	0.627000														191			8		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123202104	123202104	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123202104G>A	uc004bkf.3	-	23	3476	c.3295C>T	c.(3295-3297)Cag>Tag	p.Q1099*	CDK5RAP2_uc010mvi.3_Nonsense_Mutation_p.Q108*|CDK5RAP2_uc004bke.3_Nonsense_Mutation_p.Q384*|CDK5RAP2_uc004bkg.3_Nonsense_Mutation_p.Q1099*|CDK5RAP2_uc011lxw.2_Nonsense_Mutation_p.Q364*|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Nonsense_Mutation_p.Q364*|CDK5RAP2_uc011lya.2_Nonsense_Mutation_p.Q364*|CDK5RAP2_uc004bkh.1_Nonsense_Mutation_p.Q869*|CDK5RAP2_uc004bki.3_Nonsense_Mutation_p.Q866*	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1099	Interaction with MAPRE1.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCTCTGACTGATCAGTCCCC	0.408000														21			38		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573933	154573933	+	Silent	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154573933G>C	uc001ffh.3	-	1	1427	c.1185C>G	c.(1183-1185)ccC>ccG	p.P395P	ADAR_uc021pag.1_Silent_p.P100P|ADAR_uc001ffj.3_Silent_p.P395P|ADAR_uc001ffi.3_Silent_p.P395P|ADAR_uc001ffk.3_Silent_p.P100P|ADAR_uc001ffl.1_Silent_p.P100P	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	395					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CATTTGATGTGGGTATATTAC	0.448000														109			109		0	0	1	0	0
GLT8D1	55830	broad.mit.edu	37	3	52731836	52731836	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52731836A>C	uc003dfi.4	-	3	461	c.230T>G	c.(229-231)cTt>cGt	p.L77R	GLT8D1_uc003dfk.3_Missense_Mutation_p.L77R|GLT8D1_uc003dfl.3_Missense_Mutation_p.L77R|GLT8D1_uc003dfm.3_Missense_Mutation_p.L77R|GLT8D1_uc003dfn.3_Missense_Mutation_p.L77R	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	77						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCCCCCCAAGCCTGTCTTC	0.493000														62			21		0	0	1	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193129	193129	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:193129G>A	uc001loa.1	+	0	50	c.30G>A	c.(28-30)gtG>gtA	p.V10V		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	10						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCTGCTGGTGGCCCTCACCC	0.607000														58			11		0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520829	153520829	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153520829A>C	uc001fca.1	-	1	216	c.133T>G	c.(133-135)Tgg>Ggg	p.W45G	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	45	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCGGGGTCCAGGTGGCCAGC	0.617000														178			5		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436237	158436237	+	Missense_Mutation	SNP	G	A	A	rs142494640		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158436237G>A	uc010pij.2	+	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGAAATAAGGAATTCAAATC	0.378000														50			46		0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91180266	91180266	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:91180266G>A	uc001dns.3	-	1	715	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	225						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCACAGGGGGACTCTCACGG	0.542000														90			86		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197066071	197066071	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:197066071G>A	uc002utm.1	-	28	4832	c.4649C>T	c.(4648-4650)cCa>cTa	p.P1550L	HECW2_uc002utl.1_Missense_Mutation_p.P1194L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1550	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGAAAAGGATGGGTAGGGAGG	0.438000														50			24		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169887	7169887	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7169887A>C	uc001qsj.3	+	5	833	c.114A>C	c.(112-114)aaA>aaC	p.K38N	C1S_uc001qsk.3_Missense_Mutation_p.K38N|C1S_uc001qsl.3_Missense_Mutation_p.K38N|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	38	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGGTAGAGAAATCTTGGGACA	0.483000														97			4		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089082	43089082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:43089082C>T	uc003bdb.3	-	2	1137	c.876G>A	c.(874-876)tgG>tgA	p.W292*	A4GALT_uc021wqo.1_Nonsense_Mutation_p.W292*|A4GALT_uc021wqp.1_Nonsense_Mutation_p.W292*|A4GALT_uc010gzd.3_Nonsense_Mutation_p.W292*|A4GALT_uc021wqq.1_Nonsense_Mutation_p.W292*	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	292					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTACTTCTTCCAGTCCTGCC	0.647000														16			9		0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117448247	117448247	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:117448247G>A	uc001twg.1	+	7	1441	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	FBXW8_uc001twf.1_Missense_Mutation_p.M387I	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	453							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGCAACATGGACGGGAGGT	0.612000														39			26		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961620	85961620	+	Silent	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:85961620G>T	uc003dql.3	+	4	606	c.606G>T	c.(604-606)gcG>gcT	p.A202A	CADM2_uc003dqj.3_Silent_p.A200A|CADM2_uc003dqk.3_Silent_p.A209A|CADM2_uc003dqm.2_Silent_p.A92A|CADM2_uc021xay.1_Silent_p.A92A|CADM2_uc021xaz.1_Silent_p.A92A|CADM2_uc021xba.1_Silent_p.A92A	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	200	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.A202T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATGGAGTGGCGGTCATCTGCA	0.478000														20			9		5.4927e-09	5.51389e-09	1	1	0
MGAM	8972	broad.mit.edu	37	7	141795381	141795381	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141795381C>T	uc003vwy.3	+	40	4841	c.4787C>T	c.(4786-4788)tCc>tTc	p.S1596F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1596	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCCTGTGTCCTGGGATGTT	0.458000														40			33		0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9197094	9197094	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9197094C>T	uc002czm.3	+	2	926	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.	187										endometrium(4)|large_intestine(2)|lung(2)	8						TGCAACCCTTCCGGGAAGCCA	0.463000														24			15		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883310	19883310	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19883310G>A	uc010vav.2	-	1	1167	c.936C>T	c.(934-936)ttC>ttT	p.F312F	GPRC5B_uc021tef.1_Silent_p.F278F|GPRC5B_uc002dgt.3_Silent_p.F286F	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	286										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGATGGCGTGGAAGATGACGA	0.632000														28			17		0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16714165	16714165	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16714165C>T	uc003stj.2	+	2	349	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stl.2_Missense_Mutation_p.R63C|BZW2_uc003stm.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.R63C|BZW2_uc003sto.1_5'UTR	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	63					RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGATTATCGTCGCTATGCAGA	0.423000														45			31		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998325	29998325	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:29998325T>G	uc010bzm.2	+	14	2788	c.2753T>G	c.(2752-2754)aTt>aGt	p.I918S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.I798S|TAOK2_uc002dva.2_Missense_Mutation_p.I911S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.I738S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	911					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGGCTCCGATTGGGACCCCT	0.627000														87			20		0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182975	114182976	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:114182975_114182976GG>AA	uc001por.1	+	4	835_836	c.571_572GG>AA	c.(571-573)ggc>AAc	p.G191N	NNMT_uc001pos.1_Missense_Mutation_p.G191N	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	191					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GAAGCCAGGGGGCTTCCTGGTG	0.619000														0			43		0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2687673	2687673	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2687673A>C	uc003smp.3	+	4	894	c.707A>C	c.(706-708)aAg>aCg	p.K236T	TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Missense_Mutation_p.K65T	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	236						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCAGCTCCAAGGGCATCCTG	0.662000														59			17		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089658	86089658	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:86089658G>A	uc021rxf.1	+	0	1800	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	FLRT2_uc001xvr.3_Silent_p.L600L|FLRT2_uc010atd.3_Silent_p.L600L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	600					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTCCATCCTGGAGATGACAG	0.493000														94			99		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531956	140531956	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140531956C>T	uc003lir.3	+	0	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	706					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.682000														78			47		0	0	1	0	0
FAM101B	359845	broad.mit.edu	37	17	293168	293168	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:293168C>T	uc002frj.3	-	1	223	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	Homo sapiens family with sequence similarity 101, member B (FAM101B), mRNA.	144								p.T74M(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		AGTTGCGCCACGTGCCATTGG	0.652000														142			13		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40718847	40718847	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40718847C>T	uc002ona.3	+	6	1976	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	563					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGGCCCAGCTCCACCCTGCAG	0.657000														43			28		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42557987	42557987	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42557987G>A	uc003gwr.2	-	15	1643	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	ATP8A1_uc003gws.2_Missense_Mutation_p.H456Y|ATP8A1_uc011byz.1_Missense_Mutation_p.H456Y	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	471					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAACTTACATGATTATTTTGG	0.303000														7			7		0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138773139	138773139	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:138773139G>A	uc003len.3	-	1	229	c.149C>T	c.(148-150)tCt>tTt	p.S50F	DNAJC18_uc010jff.3_Missense_Mutation_p.S50F	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	50					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCATTCTCAGACTTCTTTTC	0.498000														28			18		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584314	28584314	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28584314G>A	uc002kwj.4	-	12	2062	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	DSC3_uc002kwi.4_Missense_Mutation_p.S636L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	636	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTTCTGATATGAAAGACGGGC	0.333000														4			27		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964913	42964913	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42964913C>T	uc003gwt.3	+	1	390	c.389C>T	c.(388-390)cCa>cTa	p.P130L		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	130	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCAGCAACCATCAACTGAT	0.363000														94			26		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315890	125315890	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125315890C>T	uc011lyx.2	+	0	442	c.442C>T	c.(442-444)Cat>Tat	p.H148Y		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCAACCACTCCATTACAGCAC	0.522000														51			31		0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6263407	6263407	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:6263407A>G	uc001ije.3	+	8	1279	c.895A>G	c.(895-897)Agc>Ggc	p.S299G	PFKFB3_uc001ijd.3_Missense_Mutation_p.S279G|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Missense_Mutation_p.S313G|PFKFB3_uc001ijf.3_Missense_Mutation_p.S299G|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	299	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CGTGTGGACCAGCCAGCTGAA	0.627000														33			6		0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1093967	1093967	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1093967C>T	uc002lre.4	-	1	245	c.168G>A	c.(166-168)acG>acA	p.T56T	POLR2E_uc010xgf.2_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	56					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGAGGTCCGTGCGCCGCG	0.642000														26			20		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140173	57140173	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:57140173C>T	uc001cyk.4	+	1	285	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	72	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAAACTCTTTCGTCATCCTCA	0.269000														48			24		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085291	167085291	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167085291G>A	uc010fpl.3	-	21	4424	c.4083C>T	c.(4081-4083)gcC>gcT	p.A1361A	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1372						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)	CATTCATAAGGGCAAAACATT	0.403000														124			45		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499702	18499702	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18499702C>T	uc001rdt.3	+	10	1673	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.P519P|PIK3C2G_uc010sic.2_Silent_p.P297P	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	519					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCTAAATCCCGGGCTTCCTT	0.443000														22			26		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525686	176525686	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176525686G>A	uc001gkz.3	+	1	1392	c.228G>A	c.(226-228)ggG>ggA	p.G76G	PAPPA2_uc001gky.1_Silent_p.G76G|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	76					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						GCAGGGCTGGGAACTACCTAA	0.562000														117			63		0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130162257	130162257	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130162257C>T	uc004bqu.3	+	3	543	c.498C>T	c.(496-498)gtC>gtT	p.V166V	SLC2A8_uc010mxj.3_Silent_p.V166V	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	166						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TAATGGTCGTCGTCGGCATCC	0.517000														54			18		0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526301	16526301	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16526301A>C	uc010cpi.2	-	5	1991	c.1899T>G	c.(1897-1899)atT>atG	p.I633M	ZNF624_uc021tre.1_Missense_Mutation_p.I507M	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCAGTATGAATTTTCTGAT	0.388000														178			6		0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100925672	100925672	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:100925672G>A	uc002tal.4	-	1	1335	c.695C>T	c.(694-696)tCa>tTa	p.S232L	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	232					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CAGCAATAATGAATTATCATC	0.363000														39			15		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279922	163279922	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163279922G>A	uc002uch.2	-	8	2307	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	KCNH7_uc002uci.3_Missense_Mutation_p.P686L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	693					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.P693R(2)|p.P686R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAGAGGGTTGGGGATTTGGTG	0.438000														45			90		0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108608297	108608297	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:108608297T>G	uc003hyk.3	-	3	532	c.448A>C	c.(448-450)Agt>Cgt	p.S150R	PAPSS1_uc011cfh.1_Intron	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	150					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AACGGTAAACTTGCACCTTCA	0.343000														54			5		0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63682182	63682182	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:63682182A>G	uc001nyc.3	-	4	813	c.425T>C	c.(424-426)cTg>cCg	p.L142P		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	142	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGTTCAAACAGCACCTTGTC	0.592000														377			20		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725099	66725099	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:66725099C>T	uc001sti.2	+	11	2864	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	946					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAGAAAAACTCGTTTGAAACA	0.527000														1			38		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553512	19553512	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:19553512C>T	uc001vuz.1	+	0	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	32										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGGTGCA	0.587000														415			61		0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175956539	175956539	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:175956539T>C	uc003mek.1	-	8	1646	c.1121A>G	c.(1120-1122)cAg>cGg	p.Q374R	RNF44_uc011dfo.1_Missense_Mutation_p.Q282R|RNF44_uc003mel.1_Missense_Mutation_p.Q63R	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	374							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTCCGACTGATGGCTGTC	0.642000														30			31		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15270559	15270559	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:15270559A>C	uc003bzn.3	+	7	1201	c.931A>C	c.(931-933)Att>Ctt	p.I311L		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	311	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TAAGAAGTTAATTACCGGGTA	0.343000														97			13		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73501549	73501549	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:73501549G>A	uc001jrx.4	+	35	5097	c.4707G>A	c.(4705-4707)aaG>aaA	p.K1569K	CDH23_uc001jsc.1_Silent_p.K379K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1572	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.S1569C(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGGCAACAAGGACATGGCCT	0.617000														0			16		0	0	1	0	0
FAM200A	221786	broad.mit.edu	37	7	99145986	99145986	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99145986A>G	uc003ura.3	-	1	425	c.45T>C	c.(43-45)ggT>ggC	p.G15G	FAM200A_uc003urb.3_Silent_p.G15G|FAM200A_uc022aia.1_Silent_p.G15G	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	15						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TCTCCTGGGTACCCCCTGGAG	0.463000														67			4		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127710419	127710419	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:127710419C>T	uc003kuu.3	-	14	2436	c.1997G>A	c.(1996-1998)gGa>gAa	p.G666E	FBN2_uc003kuv.2_Missense_Mutation_p.G633E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	666	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGCAGATTCCTGGGGTCTG	0.522000														19			12		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183382805	183382805	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183382805A>C	uc003flv.3	+	4	1497	c.1202A>C	c.(1201-1203)aAa>aCa	p.K401T	KLHL24_uc003flw.3_Missense_Mutation_p.K401T|KLHL24_uc003flx.3_Missense_Mutation_p.K401T	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	401						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGGCGTCACAAAATGGCTGTC	0.388000														134			5		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231081634	231081634	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:231081634G>A	uc002vqg.3	-	1	249	c.9C>T	c.(7-9)acC>acT	p.T3T	SP110_uc002vqh.3_Silent_p.T3T|SP110_uc002vqi.4_Silent_p.T3T|SP110_uc010fxk.3_Silent_p.T3T|SP110_uc021vxx.1_Silent_p.T9T	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	3	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTCTTGTCATGGTGAACATCC	0.522000														20			12		0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108955408	108955409	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:108955408_108955409GG>AA	uc003hyq.3	+	7	1059_1060	c.840_841GG>AA	c.(838-843)atggat>atAAat	p.280_281MD>IN	HADH_uc010ilx.3_Missense_Mutation_p.297_298MD>IN|HADH_uc003hyr.3_Missense_Mutation_p.284_285MD>IN	NM_005327	NP_005318	Q16836	HCDH_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase (HADH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	280					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GGCATGAAATGGATGCAGAGAA	0.455000														83			36		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486156	8486156	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8486156C>A	uc003zkk.3	-	27	3404	c.2661G>T	c.(2659-2661)aaG>aaT	p.K887N	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	887	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGATGCTCCCTTGTGGATGT	0.463000										TSP Lung(15;0.13)				17			20		8.10497e-08	8.13362e-08	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10031883	10031883	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:10031883G>A	uc010uym.2	-	3	1250	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	GRIN2A_uc002czo.4_Missense_Mutation_p.P314S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P157S|GRIN2A_uc002czr.4_Missense_Mutation_p.P314S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	314					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGCCTCGGGGATGTAGGAG	0.582000														20			14		0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48125825	48125825	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48125825C>T	uc004djb.1	+	7	662	c.571_splice	c.e7+1			NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						ACGAGTAACTCCGTAAGTGAA	0.483000			T	SS18	synovial sarcoma									5			171		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911734	23911734	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23911734A>G	uc001uon.2	-	9	6870	c.6281T>C	c.(6280-6282)gTt>gCt	p.V2094A	SACS_uc001uoo.2_Missense_Mutation_p.V1947A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2094					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACATGGAGTAACACGAAGAAC	0.368000														19			12		0	0	1	0	0
CHMP5	51510	broad.mit.edu	37	9	33276471	33276471	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33276471A>G	uc003zsm.4	+	5	605	c.405A>G	c.(403-405)ctA>ctG	p.L135L	CHMP5_uc011lnv.2_Silent_p.L135L	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	Homo sapiens charged multivesicular body protein 5 (CHMP5), transcript variant 1, mRNA.	135	Interaction with VTA1.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			AAGACCAGCTAGAGGATATGA	0.383000														32			8		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230312172	230312172	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:230312172C>T	uc002vpv.3	-	7	1493	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	DNER_uc010zly.1_Missense_Mutation_p.G177E	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	449	EGF-like 6.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAAGTGTACCCCGTCCACATA	0.572000														22			9		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573104	53573104	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53573104T>C	uc010eqk.3	-	6	1099	c.683A>G	c.(682-684)cAa>cGa	p.Q228R	ZNF160_uc002qaq.4_Missense_Mutation_p.Q228R|ZNF160_uc002qar.4_Missense_Mutation_p.Q228R	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	228					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CCTGTGGGTTTGGACACTAGA	0.353000														149			59		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607766	607766	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:607766C>T	uc001lqe.3	+	13	2441	c.2310C>T	c.(2308-2310)gtC>gtT	p.V770V	PHRF1_uc010qwc.2_Silent_p.V769V|PHRF1_uc010qwd.2_Silent_p.V768V|PHRF1_uc010qwe.2_Silent_p.V766V|PHRF1_uc009ybz.1_Silent_p.V560V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	770							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAAAGGGGTCGGGTCGACCT	0.642000														14			14		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188288	7188288	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:7188288C>T	uc003bqm.2	+	1	943	c.669C>T	c.(667-669)acC>acT	p.T223T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.T223T|GRM7_uc003bql.2_Silent_p.T223T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	223					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	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|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)	ATGTGTCTACCCTCGCATCGG	0.522000														37			21		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266898	48266898	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48266898G>A	uc001ngs.1	+	0	243	c.243G>A	c.(241-243)agG>agA	p.R81R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGCTGAAAGGAAAGTCATAT	0.507000														99			21		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185867924	185867924	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185867924C>T	uc003fqa.3	-	24	2868	c.2331G>A	c.(2329-2331)aaG>aaA	p.K777K	DGKG_uc003fqb.3_Silent_p.K738K|DGKG_uc003fqc.3_Silent_p.K752K|DGKG_uc011brx.2_Silent_p.K718K	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	777					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGAAGCTGCTCTTCTGGGGAG	0.433000														9			25		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619522	68619522	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:68619522G>A	uc001stx.1	-	0	50	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	5					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ACCTCAAAATGAAATTCACCA	0.463000														180			50		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709862	102709862	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102709862C>T	uc001phj.1	-	6	1113	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	350	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAAACGAGGTCCTTGCTAGTA	0.373000														3			42		0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039927	207039927	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207039927G>A	uc001her.3	+	2	368	c.324G>A	c.(322-324)aaG>aaA	p.K108K	IL20_uc009xby.3_Silent_p.K108K	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	108					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CTCTCCGGAAGATCAGCAGCC	0.512000														144			116		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732865	112732865	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112732865G>A	uc002thk.1	+	7	1083	c.961_splice	c.e7-1	p.V321_splice	MERTK_uc002thl.1_Splice_Site_p.V145_splice	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	321	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTTCGTTTAGGTCAAGGAAG	0.522000														70			21		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152419197	152419197	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152419197G>A	uc021vrb.1	-	90	13745	c.13716C>T	c.(13714-13716)ttC>ttT	p.F4572F	NEB_uc002txr.3_Silent_p.F1038F|NEB_uc002txu.3_Silent_p.F6273F|NEB_uc021vrc.1_Silent_p.F6273F|NEB_uc010fnx.3_Silent_p.F4560F|NEB_uc021vrd.1_Silent_p.F4572F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4572					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCACTGGTGGAAATAGTGTC	0.473000														8			11		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27401307	27401307	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:27401307C>T	uc003xfu.3	+	16	1572	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	EPHX2_uc010luv.3_Silent_p.F431F|EPHX2_uc003xfv.3_Silent_p.F444F|EPHX2_uc010luw.3_Silent_p.F431F	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	497	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGAAGGACTTCGTGCTCGTTC	0.607000														49			19		0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180235663	180235663	+	Missense_Mutation	SNP	G	A	A	rs150875319	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180235663G>A	uc001goe.2	+	2	617	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	129	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CACGGGGGACGAATTCTACCT	0.607000														23			23		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447409	226447409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:226447409C>T	uc002voe.2	+	3	1451	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P196S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	426	Pro-rich.																AACCCAGTCTCCCCATGGCTA	0.662000														12			8		0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16634034	16634034	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16634034A>G	uc002nei.1	-	10	1883	c.1809T>C	c.(1807-1809)ccT>ccC	p.P603P	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.P142P	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	603	Pro-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTCCAGCCCAAGGCGGGTGCT	0.662000														114			32		0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131821	40131821	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40131821C>T	uc001cdq.1	-	1	223	c.223G>A	c.(223-225)Ggc>Agc	p.G75S		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	75					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.G75G(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCTCCACGCCCTGCTCCGTG	0.587000														39			54		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:52645101G>A	uc002xws.2	-	3	891	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	BCAS1_uc010zzb.1_Missense_Mutation_p.P88S|BCAS1_uc010gim.2_Missense_Mutation_p.P88S|BCAS1_uc002xwt.2_Missense_Mutation_p.P185S|BCAS1_uc010gil.1_Missense_Mutation_p.P185S|BCAS1_uc010zzc.2_Missense_Mutation_p.P88S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	185						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592000														72			66		0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31374743	31374743	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:31374743A>C	uc001wqu.2	-	14	2126	c.1910T>G	c.(1909-1911)gTt>gGt	p.V637G	STRN3_uc001wqv.2_Missense_Mutation_p.V553G|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	637					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATAAAGTCAACTGATGTAGG	0.343000														36			16		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027440	9027440	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9027440G>A	uc003brf.1	-	21	3739	c.3063C>T	c.(3061-3063)ccC>ccT	p.P1021P	SRGAP3_uc003brg.1_Silent_p.P997P	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1021					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGGCGGCATCGGGGTCGCGGA	0.701000			T	RAF1	pilocytic astrocytoma									23			49		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065276	189065276	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:189065276G>A	uc003izm.1	+	4	960	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TRIML1_uc003izn.1_Missense_Mutation_p.R6K	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	282	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAGATGCTAAGAAAATTCAGC	0.512000														13			8		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136078051	136078051	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:136078051A>C	uc003era.1	-	26	3167	c.2875T>G	c.(2875-2877)Ttt>Gtt	p.F959V	STAG1_uc003erb.1_Missense_Mutation_p.F959V	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	959					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R958H(1)|p.R958C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAAGGGCAAAGCGACGTGCC	0.413000														74			13		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50450284G>A	uc003tow.4	+	4	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.Q69Q|IKZF1_uc022acu.1_Silent_p.Q69Q|IKZF1_uc003tox.4_Silent_p.Q156Q|IKZF1_uc022acv.1_Silent_p.Q69Q|IKZF1_uc022acw.1_Silent_p.Q69Q|IKZF1_uc022acx.1_Silent_p.Q156Q|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.Q69Q|IKZF1_uc003toy.4_Silent_p.Q156Q|IKZF1_uc003toz.4_Silent_p.Q126Q|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612000			"""D,T"""	BCL6	"""ALL, DLBCL"""									16			9		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53267620	53267620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:53267620C>T	uc001cuj.3	+	8	1810	c.1615C>T	c.(1615-1617)Caa>Taa	p.Q539*	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Intron|ZYG11B_uc009vzh.3_5'UTR	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	539							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATTGAAAACCAAGGGTTAGA	0.318000														16			20		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768462	51768463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51768462_51768463CC>TT	uc003pah.1	-	42	7204_7205	c.6928_6929GG>AA	c.(6928-6930)gga>AAa	p.G2310K	PKHD1_uc010jzn.1_Missense_Mutation_p.G293K|PKHD1_uc003pai.3_Missense_Mutation_p.G2310K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2310					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.E2309K(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATTGGAGAGTCCCTCGGCACCA	0.431000														72			48		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140469211	140469211	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140469211T>G	uc004cnk.1	-	3	618	c.460A>C	c.(460-462)Act>Cct	p.T154P	WDR85_uc004cnm.1_5'UTR|WDR85_uc022bqk.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	154					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		TACCTTCCAGTTTTCCCAGTG	0.557000														123			36		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212934	10212934	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10212934C>T	uc002gmk.1	-	33	4960	c.4870G>A	c.(4870-4872)Gga>Aga	p.G1624R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1624					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTAAGGTCTCCCTCCATCTTC	0.587000														6			8		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457771	5457771	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:5457771C>T	uc003jdm.4	+	11	1240	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	340	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTTCAAACTTCCCCCTCCTCT	0.463000														226			114		0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29521266	29521266	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29521266T>A	uc011akm.1	+	4	546	c.493T>A	c.(493-495)Tca>Aca	p.S165T	KREMEN1_uc003ael.3_Missense_Mutation_p.S165T|KREMEN1_uc011akn.2_Missense_Mutation_p.S48T	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	163	WSC.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TGGGATGGAGTCAGGCTATGC	0.557000														174			8		0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44452672	44452672	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44452672T>G	uc002xpr.3	-	4	475	c.409A>C	c.(409-411)Aaa>Caa	p.K137Q		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	137	EF-hand 4.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	p.M136I(1)		endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				TCGCCGTCTTTCATCAGAGAT	0.622000														134			34		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144618540	144618540	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144618540C>T	uc003yyd.2	-	2	1477	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	483					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTCTTCCCCCTGAGGGCCTG	0.642000														9			8		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51452217G>A	uc002pue.3	-	4	708	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_uc002puf.3_Missense_Mutation_p.R164C|KLK5_uc002pug.3_Missense_Mutation_p.R164C	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	164	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R164C(2)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547000														48			31		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948640	198948640	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:198948640T>C	uc010fsp.3	+	1	797	c.399T>C	c.(397-399)cgT>cgC	p.R133R	PLCL1_uc002uuv.4_Silent_p.R54R	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	133	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTACAACCGTTTTTTCACTC	0.438000														34			4		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588974	31588974	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:31588974C>T	uc002rnv.1	-	22	2402	c.2323_splice	c.e22-1	p.S775_splice		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	775					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGCAACAAAGCTCTGTGAGTG	0.493000														58			20		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754854	49754854	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:49754854C>T	uc003ozu.3	-	0	200	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	16					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.G16W(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GACTCGCTTCCCTCTAACATC	0.408000														28			36		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6091023	6091023	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6091023G>A	uc001qnn.1	-	41	7466	c.7216C>T	c.(7216-7218)Ccc>Tcc	p.P2406S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2406					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TACCCAAGGGGACAGCTCACT	0.562000														66			44		0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28119298	28119298	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:28119298T>G	uc001msc.2	-	1	379	c.197A>C	c.(196-198)aAg>aCg	p.K66T	KIF18A_uc001msd.3_Missense_Mutation_p.K66T	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	66	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ATTTTGTTTCTTTATAACATT	0.313000														23			6		0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13035542	13035542	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13035542T>G	uc002mvs.2	-	9	1154	c.1106A>C	c.(1105-1107)gAg>gCg	p.E369A	FARSA_uc010xmv.1_Missense_Mutation_p.E338A	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	369					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTGGTGGAACTCAGCCAGGTG	0.612000														88			23		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227625	35227625	+	Missense_Mutation	SNP	C	T	T	rs148656277		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35227625C>T	uc001bxw.4	+	0	770	c.770C>T	c.(769-771)tCg>tTg	p.S257L	GJB4_uc001bxv.1_Missense_Mutation_p.S257L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	257					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAGGCTGGGTCGGCCCCAGTG	0.597000														11			27		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767955	39767955	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39767955C>T	uc002hxg.4	-	1	689	c.550G>A	c.(550-552)Gag>Aag	p.E184K	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	184	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGCGCATTCTCAATGGTGGCC	0.577000														0			11		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362958	128362958	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:128362958G>A	uc003kuy.3	+	7	1784	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	SLC27A6_uc003kuz.3_Missense_Mutation_p.G463E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	463					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.T462T(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTAATACTGGAGACTTAATA	0.388000														23			32		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74411911	74411911	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:74411911G>A	uc010vmt.1	+	0	41	c.40G>A	c.(40-42)Gga>Aga	p.G14R				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	0								p.G14E(1)		endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						GCTCCTGCTGGGATTTATCAG	0.592000														11			4		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795883	100795883	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100795883G>A	uc001yhc.3	+	5	901	c.828G>A	c.(826-828)aaG>aaA	p.K276K	SLC25A47_uc001yhd.3_Silent_p.K130K	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	276					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCCTTTTCAAGGGGCTGGTAC	0.637000														83			80		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115527142	115527142	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:115527142A>C	uc001lat.2	+	3	807	c.245A>C	c.(244-246)aAg>aCg	p.K82T	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.K88T|C10orf81_uc001las.2_5'UTR	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	82	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AGCCAGGAAAAGATGCAATCT	0.378000														12			4		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35243540	35243540	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:35243540G>A	uc001wsk.3	-	18	3558	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V	BAZ1A_uc001wsl.3_Missense_Mutation_p.A965V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	997					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AACCTTGATGGCTCCTAATGT	0.348000														21			4		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72502746	72502746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:72502746G>A	uc002aty.2	-	3	604	c.320C>T	c.(319-321)cCc>cTc	p.P107L	PKM2_uc010bit.1_Missense_Mutation_p.P112L|PKM2_uc010uki.2_Missense_Mutation_p.P181L|PKM2_uc002atx.2_Missense_Mutation_p.P107L|PKM2_uc002atw.2_Missense_Mutation_p.P107L|PKM2_uc010ukj.2_Missense_Mutation_p.P92L|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Missense_Mutation_p.P142L|PKM2_uc010biu.1_Missense_Mutation_p.P128L	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	107					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	CACAGCAACGGGCCGGTAGAG	0.552000														5			60		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716465	35716465	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35716465G>A	uc003ola.3	+	5	949	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ARMC12_uc003olb.1_Missense_Mutation_p.E271K	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	281							binding										GTCCCTGCATGAATCCCTCTT	0.557000														59			43		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762932	13762932	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13762932C>T	uc003jfd.2	-	59	10222	c.10180G>A	c.(10180-10182)Gaa>Aaa	p.E3394K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3394	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGCAGTTTCGATGTTATAG	0.373000									Kartagener syndrome					34			48		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369430	22369430	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22369430T>A	uc010tzu.2	+	0	953	c.855T>A	c.(853-855)aaT>aaA	p.N285K	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTTACGTAATCCCATTATTT	0.358000														66			26		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2381052	2381052	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:2381052C>T	uc002wfy.1	+	6	1012	c.951C>T	c.(949-951)ttC>ttT	p.F317F	TGM6_uc010gal.1_Silent_p.F317F	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	317					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGACTCCTTCGGGCGGACCC	0.617000														52			38		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258330	1258330	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1258330A>T	uc001lta.3	+	24	3292	c.3233A>T	c.(3232-3234)aAg>aTg	p.K1078M	MUC5B_uc009yct.2_Missense_Mutation_p.K1078M	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1078	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTTCCGCAAGTCCTGGGCC	0.697000														56			11		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63409814	63409814	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:63409814G>A	uc022byb.1	-	0	3353	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	FAM123B_uc004dvo.3_Missense_Mutation_p.A1118V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	1118					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GGCAAGAGAGGCACCTTGCTC	0.577000														2			10		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	45004277	45004277	+	Missense_Mutation	SNP	C	T	T	rs144210143		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45004277C>T	uc002ozf.4	-	0	298	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ZNF180_uc002ozh.4_Intron|ZNF180_uc002ozi.4_Intron|ZNF180_uc002ozg.4_Missense_Mutation_p.R3K|ZNF180_uc010ejm.3_Missense_Mutation_p.G6R	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CGCGTAGACCCTGCGCATGCG	0.682000											OREG0025537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			91		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297625	36297625	+	Silent	SNP	C	T	T	rs139352995		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36297625C>T	uc002obx.1	-	6	1032	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	338					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCTTCACCCGGGCTGTTCC	0.657000														27			17		0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190436	27190436	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27190436G>A	uc010ofi.1	-	0		c.14C>T			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.E245K			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GGCTCCCCAGGAGCCCCAGAG	0.682000														58			17		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45609904	45609904	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45609904G>T	uc001wwd.4	+	2	850	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	FANCM_uc001wwc.2_Missense_Mutation_p.D251Y|FANCM_uc010anf.3_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	251	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCAGGTAGTGATATAAAGGT	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					37			21		9.95505e-16	1.00257e-15	1	1	0
IL12RB1	3594	broad.mit.edu	37	19	18186629	18186629	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18186629G>A	uc002nhx.1	-	7	801	c.750C>T	c.(748-750)ctC>ctT	p.L250L	IL12RB1_uc002nhw.1_Silent_p.L210L|IL12RB1_uc010xqb.1_Silent_p.L210L|IL12RB1_uc002nhy.3_Silent_p.L210L	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	210	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCCGTCGTCGGAGCTGGAATT	0.602000														95			30		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52903335	52903335	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:52903335A>C	uc010ugf.2	-	3	677	c.543T>G	c.(541-543)atT>atG	p.I181M	FAM214A_uc002acg.4_Missense_Mutation_p.I174M|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.I86M	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	174																	ACCTGTAGAGAATATTTCGTG	0.408000														33			26		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725838	11725838	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:11725838C>T	uc002gne.3	+	46	9002	c.8934C>T	c.(8932-8934)atC>atT	p.I2978I	DNAH9_uc010coo.3_Silent_p.I2272I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2978	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2978I(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACAGCCATCCACTGGTTCC	0.537000														9			153		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18042554	18042554	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18042554C>T	uc001mnp.2	-	9	1345	c.1319G>A	c.(1318-1320)aGg>aAg	p.R440K	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	440					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCGGCTTCCTGCTGACCTT	0.483000														81			61		0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378881	19378881	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19378881T>G	uc002nmd.1	-	6	675	c.625A>C	c.(625-627)Aga>Cga	p.R209R	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	209						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGTCCCTTTCTTTGTTCCTCT	0.527000														28			6		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209862	65209862	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65209862C>T	uc001xhp.2	+	16	3503	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S978F|PLEKHG3_uc001xho.1_Missense_Mutation_p.S1034F|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S576F|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S539F	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1034					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCGGCCCTCCGCCCGGAGC	0.682000														120			98		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561088	44561088	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:44561088C>T	uc002lcr.1	-	0	901	c.548G>A	c.(547-549)gGc>gAc	p.G183D	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	183					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCTCAGGGCCCTCGGGCAT	0.697000														4			61		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841902	13841902	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13841902C>T	uc003jfd.2	-	32	5425	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1795	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGAGATTCTTCCAAAAGA	0.423000									Kartagener syndrome					50			61		0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37239338	37239338	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37239338G>A	uc010efc.3	-	4	2763	c.2604C>T	c.(2602-2604)ccC>ccT	p.P868P	ZNF850_uc010xtm.2_Silent_p.P834P	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACAATGATAGGGTTTCTCAC	0.398000														4			3		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786388	112786388	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112786388G>A	uc002thk.1	+	18	3069	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N	MERTK_uc002thl.1_Missense_Mutation_p.D807N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	983					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTCATTGCCCGATGAACTTTT	0.507000														18			34		0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32487516	32487516	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:32487516T>C	uc003zra.3	-	8	1486	c.1328A>G	c.(1327-1329)aAa>aGa	p.K443R	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Missense_Mutation_p.K398R|DDX58_uc011lnr.1_Missense_Mutation_p.K240R|DDX58_uc010mji.3_Missense_Mutation_p.K372R	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	443					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CAGATTGTGTTTGACTGTTGC	0.448000														66			6		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48503748	48503748	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48503748C>T	uc010wmm.1	+	0	230	c.126C>T	c.(124-126)ctC>ctT	p.L42L	ACSF2_uc002iqu.2_Silent_p.L42L|ACSF2_uc010wml.1_Silent_p.L42L|ACSF2_uc010wmn.1_Silent_p.L42L|ACSF2_uc010wmo.1_5'UTR	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	42					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCGCTTCCTCAGGTACTGGC	0.721000														2			10		0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121508954	121508954	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121508954T>G	uc010hre.1	-	10	1310	c.1095A>C	c.(1093-1095)gaA>gaC	p.E365D	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.E232D	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	365					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	p.R364R(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCAGCTGCAATTCTCGGGAAA	0.373000														153			6		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107294	107294	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrGL000211.1:107294G>A	uc003boa.3	+	4		c.834G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAAACCTTAAGGATATCTACC	0.443000														168			50		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587911	68587911	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:68587911C>T	uc003dnd.3	+	3	480	c.264C>T	c.(262-264)tcC>tcT	p.S88S	FAM19A1_uc003dne.3_Silent_p.S88S|FAM19A1_uc003dng.3_Silent_p.S88S	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	88						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCACAGCCTCCATAGTGATTG	0.473000														190			33		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204948	135204948	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135204948T>A	uc004cbk.3	-	9	2220	c.2037A>T	c.(2035-2037)ctA>ctT	p.L679L	SETX_uc004cbj.3_Silent_p.L298L|SETX_uc010mzt.3_Silent_p.L298L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	679					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GATGGTCCTCTAGTTTCACAT	0.338000														20			9		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508132	106508132	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:106508132C>T	uc003vdv.4	+	1	211	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PIK3CG_uc003vdu.3_Silent_p.F42F|PIK3CG_uc003vdw.3_Silent_p.F42F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	42					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATCGAGTTCGTGCTGCCCA	0.667000														49			51		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33004900	33004900	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:33004900A>G	uc001wrq.3	+	2	635	c.465A>G	c.(463-465)cgA>cgG	p.R155R	AKAP6_uc010aml.3_Silent_p.R152R	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	155					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAGCTTCGAGTCTCAGTGC	0.537000														52			8		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513035	70513035	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70513035C>T	uc011caq.2	-	1	444	c.328G>A	c.(328-330)Gag>Aag	p.E110K	UGT2A1_uc010ihu.3_Missense_Mutation_p.E110K|UGT2A1_uc003hem.4_Missense_Mutation_p.E110K|UGT2A1_uc010iht.3_Missense_Mutation_p.E110K	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	110					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCATCTCCTGATAGAAT	0.418000														29			15		0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15677154	15677154	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:15677154T>C	uc004cxc.2	-	2	444	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	63					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	p.N63S(2)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TGCTTCTCTGTTGGGAACTTT	0.338000														2			17		0	0	1	0	0
DYNLL2	140735	broad.mit.edu	37	17	56166550	56166550	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56166550A>C	uc010wnn.1	+	2	454	c.180A>C	c.(178-180)cgA>cgC	p.R60R		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	Homo sapiens dynein, light chain, LC8-type 2 (DYNLL2), mRNA.	60					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity			lung(3)	3						TCGTGGGCCGAAATTTTGGCA	0.433000														64			14		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946640	70946640	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:70946640T>A	uc001swb.4	-	18	4680	c.4650A>T	c.(4648-4650)gcA>gcT	p.A1550A	PTPRB_uc010sto.2_Silent_p.A1460A|PTPRB_uc010stp.2_Silent_p.A1460A|PTPRB_uc001swc.4_Silent_p.A1768A|PTPRB_uc001swa.4_Silent_p.A1680A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1550	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTCCATCTCTGCTCCAAGCT	0.438000														41			52		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230849	7230849	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7230849T>C	uc003mxb.3	+	9	3009	c.2517T>C	c.(2515-2517)gcT>gcC	p.A839A	RREB1_uc021yky.1_Silent_p.A839A|RREB1_uc003mxc.3_Silent_p.A839A|RREB1_uc010jnx.3_Silent_p.A839A|RREB1_uc021ykz.1_Silent_p.A839A|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	839					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGCCGGCCGCTGAGGCGTCGG	0.692000														13			4		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81097435	81097435	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81097435A>C	uc002fgc.4	-	2	385	c.126T>G	c.(124-126)taT>taG	p.Y42*	C16orf46_uc010chf.3_Nonsense_Mutation_p.Y42*|C16orf46_uc010vno.2_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	42										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGAGAAGACAATAAACATGAT	0.353000														41			20		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:184930405C>T	uc003ivz.1	+	2	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493000														6			19		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106819106	106819106	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:106819106G>A	uc011cfd.2	+	1	333	c.120G>A	c.(118-120)ggG>ggA	p.G40G	NPNT_uc011cfc.2_Silent_p.G40G|NPNT_uc011cfe.2_Silent_p.G40G|NPNT_uc003hya.3_Silent_p.G40G|NPNT_uc011cff.2_Silent_p.G40G	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	40					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTTATGGTGGGAGGATTGACT	0.498000														36			21		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479573	4479573	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4479573C>T	uc001qmq.1	-	2	838	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	231					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTGTTCACTCGACCGCCCCT	0.672000														48			33		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923841	226923841	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226923841G>A	uc010pvo.2	-	1	1659	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ITPKB_uc001hqh.3_Missense_Mutation_p.S440F	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	440							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CACTCTGTCGGAGAGCTGCCA	0.711000														26			27		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876270	876270	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:876270G>A	uc003jbq.3	-	11	1496	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	BRD9_uc003jbl.3_Silent_p.L327L|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Silent_p.L390L|BRD9_uc003jbo.3_Silent_p.L347L|BRD9_uc003jbp.3_Silent_p.L104L|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	443							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTGGTCCAGGAGGTCGTCCA	0.622000														31			46		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766051	43766051	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43766051T>C	uc002owd.4	-	2	769	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	PSG9_uc002owe.4_Missense_Mutation_p.S224G|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.S224G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	224	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)				CGACTGGCACTCACTGGGTTC	0.507000														413			9		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137097	40137097	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:40137097C>T	uc021qgf.1	-	0	746	c.746G>A	c.(745-747)tGg>tAg	p.W249*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.W245*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.W245*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.W249*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.W245*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	249					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTGTATCATCCACAGTTTTTG	0.438000														53			34		0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6913002	6913002	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6913002G>A	uc003wra.1	-	1	276	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACACACCCCGGAGAGGGACTC	0.557000														10			7		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703208	1703208	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1703208T>C	uc002ftm.4	-	4	1648	c.1480A>G	c.(1480-1482)Aga>Gga	p.R494G	SMYD4_uc002ftn.1_Missense_Mutation_p.R349G	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	494	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AACATGTGTCTCAGCATCGCC	0.488000														49			4		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357418	112357418	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:112357418G>A	uc003dzf.3	-	1	1553	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	CCDC80_uc011bhv.2_Silent_p.A445A|CCDC80_uc003dzg.3_Silent_p.A445A|CCDC80_uc003dzh.1_Silent_p.A445A	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	445										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGGTGGGAGGGGCATTTGTGA	0.612000														1			28		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184666	6184666	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6184666C>T	uc001amb.2	-	29	4561	c.4450G>A	c.(4450-4452)Gag>Aag	p.E1484K	CHD5_uc001alz.2_Missense_Mutation_p.E341K|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1484					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGAAGGTCTCTGCACCATCC	0.677000														23			10		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592103	38592103	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38592103A>C	uc021wvo.1	-	26	5812	c.5760T>G	c.(5758-5760)tcT>tcG	p.S1920S	SCN5A_uc021wvk.1_Silent_p.S1887S|SCN5A_uc021wvl.1_Silent_p.S1866S|SCN5A_uc021wvm.1_Silent_p.S1902S|SCN5A_uc021wvn.1_Silent_p.S1919S|SCN5A_uc021wvp.1_Silent_p.S1920S|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.S1732S|SCN5A_uc021wvi.1_Silent_p.S1786S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1920	IQ.				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATGCTTCAAAGAGCGTTGCA	0.622000														41			5		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435546	158435546	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158435546C>T	uc010pij.2	+	0	195	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTTGCCATCCTTTCTTGCT	0.483000														82			52		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381109	147381109	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:147381109G>A	uc021ovm.1	+	0	1027	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	GJA8_uc001epu.2_Missense_Mutation_p.E343K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	343					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E343K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGAGGGAGCCGAACCCGAGGT	0.657000														6			13		0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5957967	5957967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5957967G>A	uc002mdw.3	-	1	267	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	RANBP3_uc002mdx.3_Missense_Mutation_p.P14S|RANBP3_uc002mdy.3_Missense_Mutation_p.P14S|RANBP3_uc002mdz.3_Missense_Mutation_p.P14S|RANBP3_uc010duq.3_5'UTR|RANBP3_uc010xix.2_Intron	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	14					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAGACGGGCGGAGCAATGGCA	0.388000														74			19		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323100	31323100	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31323100G>A	uc010dmg.1	+	11	3343	c.3288G>A	c.(3286-3288)acG>acA	p.T1096T	ASXL3_uc002kxq.2_Silent_p.T803T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1096					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						GTGGAAAGACGAGAACTCTGG	0.567000														0			40		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497384	141497384	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:141497384C>T	uc011bnd.2	+	0	342	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	86	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGGCAACCTTCCTAGAGGACG	0.662000														1			55		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227979384	227979384	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:227979384C>T	uc021vxr.1	-	6	619	c.518G>A	c.(517-519)gGa>gAa	p.G173E	COL4A4_uc021vxs.1_Missense_Mutation_p.G173E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	173	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTGAATTTCCTTTTTCTCC	0.323000														21			39		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852861	22852861	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22852861T>G	uc001bft.2	+	18	4203	c.3692T>G	c.(3691-3693)gTg>gGg	p.V1231G	ZBTB40_uc001bfu.2_Missense_Mutation_p.V1231G|ZBTB40_uc009vqi.1_Missense_Mutation_p.V1119G	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1231					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GATGGCACAGTGACGCTGATC	0.602000														137			23		0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27497254	27497254	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27497254A>G	uc001itr.1	-	9	1412	c.692T>C	c.(691-693)cTc>cCc	p.L231P	ACBD5_uc010qdm.2_Missense_Mutation_p.L440P|ACBD5_uc010qdn.2_Missense_Mutation_p.L333P|ACBD5_uc010qdo.2_Missense_Mutation_p.L265P|ACBD5_uc010qdp.2_Missense_Mutation_p.L442P|ACBD5_uc001ito.3_Missense_Mutation_p.L407P|ACBD5_uc001itp.3_Missense_Mutation_p.L333P|ACBD5_uc001itq.3_Missense_Mutation_p.L333P			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	451					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CATCAGCACGAGGGCGATCTG	0.567000														167			14		0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30709057	30709057	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30709057G>A	uc003nrm.3	-	4	428	c.264C>T	c.(262-264)ttC>ttT	p.F88F	FLOT1_uc011dmr.2_Intron	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	88						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTTCCCCAGGAACATCTGAC	0.577000														66			60		0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32740684	32740684	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:32740684A>C	uc001iwj.3	+	1	684	c.114A>C	c.(112-114)aaA>aaC	p.K38N	CCDC7_uc009xlu.2_Non-coding_Transcript|CCDC7_uc001iwk.3_Missense_Mutation_p.K38N|CCDC7_uc009xlv.3_Non-coding_Transcript|CCDC7_uc009xly.1_Non-coding_Transcript|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Missense_Mutation_p.K38N	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	38										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TAAAGGAAAAACATAATGCAA	0.363000														40			3		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739546	12739546	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12739546C>T	uc002mua.2	+	3	1365	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	ZNF791_uc010xml.1_Silent_p.I369I|ZNF791_uc010dyu.1_Silent_p.I292I|ZNF791_uc010xmm.1_Silent_p.I292I	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATTTGAAAATCCACAAGAGAA	0.373000														65			57		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739983	62739983	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62739983C>T	uc001dah.4	-	2	1170	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	265	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTTCATCTTCCTTGTCCTCT	0.552000														14			8		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760924	2760924	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2760924A>C	uc009zdu.1	+	33	4521	c.4208A>C	c.(4207-4209)aAg>aCg	p.K1403T	CACNA1C_uc001qkc.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qke.2_Missense_Mutation_p.K1344T|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1344T|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1377T|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1342T|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1344T|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1403T|CACNA1C_uc001qkj.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkk.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkm.2_Missense_Mutation_p.K1344T|CACNA1C_uc001qko.2_Missense_Mutation_p.K1375T|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1383T|CACNA1C_uc001qku.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1372T|CACNA1C_uc001qks.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1355T|CACNA1C_uc009zdv.1_Missense_Mutation_p.K1352T|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1355T|CACNA1C_uc001qki.1_Missense_Mutation_p.K1091T|CACNA1C_uc010sea.1_Missense_Mutation_p.K46T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1403					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCTTCATCAAGTCCTTCCAG	0.647000														14			4		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53041570	53041570	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53041570C>T	uc001sat.3	-	5	1225	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	398	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGGTTCAGCTCGCTGATCTCT	0.572000														1			14		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419695	56419695	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:56419695G>A	uc002rzn.3	+	1	862	c.360G>A	c.(358-360)aaG>aaA	p.K120K	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	120										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAAAGGCAAGAGGGTGTCTC	0.537000														30			10		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36124912	36124912	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36124912G>A	uc003aof.3	+	3	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	423					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CAGCAAGAAAGGGGAGACAGG	0.617000														46			38		0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55643912	55643912	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:55643912G>A	uc001xbs.3	-	7	1134	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_uc001xbt.3_Missense_Mutation_p.S306F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	306					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383000														29			19		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154040	5154040	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:5154040C>T	uc001qni.3	+	0	956	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	243						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTTCGAGTATCCGGAGAGCTC	0.587000														106			81		0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28011316	28011316	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:28011316T>C	uc001urh.3	-	1	1779	c.555A>G	c.(553-555)aaA>aaG	p.K185K	MTIF3_uc021rhl.1_Silent_p.K185K|MTIF3_uc001uri.3_Silent_p.K185K|MTIF3_uc021rhm.1_Silent_p.K185K|MTIF3_uc001urj.3_Silent_p.K185K|MTIF3_uc001urk.3_Silent_p.K185K	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	Homo sapiens mitochondrial translational initiation factor 3 (MTIF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	185					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTAGGTGTTTTTTCTTAATCC	0.373000														22			5		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124397059	124397059	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124397059C>T	uc003ehg.3	+	49	7343	c.7216C>T	c.(7216-7218)Cta>Tta	p.L2406L	KALRN_uc003ehk.3_Silent_p.L709L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2405					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGGCATACTCTACGCATGAG	0.507000														8			185		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675875	167675875	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:167675875C>T	uc011cjq.1	-	6	808	c.751G>A	c.(751-753)Gat>Aat	p.D251N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D242N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D122N|SPOCK3_uc003iri.1_Missense_Mutation_p.D242N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D191N|SPOCK3_uc003irj.1_Missense_Mutation_p.D239N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D150N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D199N|SPOCK3_uc011cju.1_Missense_Mutation_p.D146N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D144N|SPOCK3_uc003irk.4_Missense_Mutation_p.D239N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	242					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGCTGGTATCGAATCCTAAA	0.388000														36			26		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938160	68938160	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:68938160C>T	uc003hdt.1	-	4	444	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	132	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGATGGGTATCGAAATATGAG	0.303000														28			9		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:128302184C>T	uc003kuy.3	+	1	750	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_uc003kuz.3_Silent_p.F118F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567000														13			4		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100897173	100897173	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100897173A>C	uc004aym.3	-	3	499	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CORO2A_uc004ayl.3_Missense_Mutation_p.L128R	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	128					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.L128L(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTGGCCCACGAGTTCCTTCCT	0.602000														37			13		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	62468	62468	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrGL000209.1:62468G>A	uc002quc.4	+	4	878	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.E225K|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.E269K|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Missense_Mutation_p.E174K|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.E230K|KIR2DL2_uc010evf.3_Intron	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	233					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCACCCACTGAACCAAGCTT	0.488000														186			89		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446206	51446206	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:51446206T>G	uc001wyx.4	-	8	2734	c.1969A>C	c.(1969-1971)Aac>Cac	p.N657H	TRIM9_uc001wyy.2_Missense_Mutation_p.N738H	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	657	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AATGTCAAGTTTTTTCTATTT	0.453000														131			12		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444145	49444145	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49444145C>T	uc001rta.4	-	10	3226	c.3226G>A	c.(3226-3228)Gag>Aag	p.E1076K		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1076	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAAACTTTCTCAGTCTCCATC	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				29			10		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029253	68029253	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68029253G>A	uc001xjl.1	+	6	1047	c.905G>A	c.(904-906)aGg>aAg	p.R302K		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	302						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACCTCTGCCAGGGAAGGTGGT	0.597000														25			5		0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46685373	46685373	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:46685373A>C	uc002inv.3	-	1	588	c.485T>G	c.(484-486)cTg>cGg	p.L162R		NM_004502	NP_004493	P09629	HXB7_HUMAN	Homo sapiens homeobox B7 (HOXB7), mRNA.	162						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCGTCAGGTAGCGATT	0.557000														84			32		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569202	49569202	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49569202C>T	uc021wxz.1	+	2	1727	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	DAG1_uc021wya.1_Missense_Mutation_p.P420S|DAG1_uc021wyb.1_Missense_Mutation_p.P420S|DAG1_uc021wyc.1_Missense_Mutation_p.P420S|DAG1_uc021wyd.1_Missense_Mutation_p.P420S|DAG1_uc021wye.1_Missense_Mutation_p.P420S|DAG1_uc021wyf.1_Missense_Mutation_p.P420S|DAG1_uc021wyg.1_Missense_Mutation_p.P420S|DAG1_uc021wyh.1_Missense_Mutation_p.P420S|DAG1_uc021wyi.1_Missense_Mutation_p.P420S|DAG1_uc021wyj.1_Missense_Mutation_p.P420S|DAG1_uc021wyk.1_Missense_Mutation_p.P420S|DAG1_uc003cxc.4_Missense_Mutation_p.P420S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	420	Mucin-like domain.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCTACCCCTCCCACAACCAC	0.572000														40			14		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620710	26620710	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26620710T>C	uc001blw.3	-	8	818	c.545A>G	c.(544-546)aAg>aGg	p.K182R	UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Missense_Mutation_p.K149R|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Missense_Mutation_p.K149R|UBXN11_uc010ofb.1_Missense_Mutation_p.K107R|UBXN11_uc010ofc.1_Missense_Mutation_p.K24R	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	182						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTCCAGAACTTCTTGGCTGT	0.592000														135			15		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33136832	33136832	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:33136832A>C	uc001iwm.1	+	16	1737	c.1501A>C	c.(1501-1503)Agg>Cgg	p.R501R	C10orf68_uc001iwl.1_Silent_p.R456R|C10orf68_uc001iwn.4_Silent_p.R497R|C10orf68_uc010qei.1_Silent_p.R473R|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	497										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACACAACTAAGGACTCACTA	0.308000														63			11		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076967	41076967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:41076967G>A	uc002xkg.3	-	8	1637	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	PTPRT_uc010ggj.3_Missense_Mutation_p.P485S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	485	Fibronectin type-III 3.				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)				ACAGCTCCTGGAACTACAGAA	0.483000														70			38		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568257	223568257	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:223568257G>A	uc001hoa.2	+	0	1543	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	480										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGCCCAGAAGGAGGAAGAGC	0.592000														21			22		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18072879	18072879	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18072879G>A	uc002zmp.1	+	10	1319	c.825G>A	c.(823-825)gaG>gaA	p.E275E	SLC25A18_uc002zmq.1_Silent_p.E275E	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	275						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGATTCAGGAGGGACCATCTG	0.552000														49			41		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104667	168104667	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168104667G>A	uc002udx.3	+	8	6854	c.6765G>A	c.(6763-6765)atG>atA	p.M2255I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M2080I|XIRP2_uc010fpq.3_Missense_Mutation_p.M2033I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2080					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTTCTAATGAAAACAAATA	0.373000														20			32		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92613243	92613243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92613243G>A	uc001doo.3	+	8	1289	c.1022G>A	c.(1021-1023)tGg>tAg	p.W341*	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	341						nucleus		p.W341C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTTAACAGGTGGATTGTAAAG	0.284000														16			12		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929328	23929328	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23929328T>C	uc001uon.2	-	7	2012	c.1423A>G	c.(1423-1425)Agg>Ggg	p.R475G	SACS_uc001uoo.2_Missense_Mutation_p.R328G|SACS_uc001uop.1_Missense_Mutation_p.R262G|SACS_uc001uoq.1_Missense_Mutation_p.R328G	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	475					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTATGCTCCTGCGGTTATCA	0.483000														56			7		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874814	80874814	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:80874814C>T	uc010ysh.2	+	17	2684	c.2679C>T	c.(2677-2679)gtC>gtT	p.V893V	CTNNA2_uc010yse.2_Silent_p.V845V|CTNNA2_uc010ysf.2_Silent_p.V845V|CTNNA2_uc010ysg.2_Silent_p.V800V|CTNNA2_uc010ysi.2_Silent_p.V477V|CTNNA2_uc010ysj.2_Silent_p.V174V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	893					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACCAGAAGGTCTATGGGACAG	0.483000														107			47		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079356	10079356	+	Missense_Mutation	SNP	C	T	T	rs145643115		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10079356C>T	uc002mmq.1	-	57	4287	c.4201G>A	c.(4201-4203)Gaa>Aaa	p.E1401K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1401	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTACCTTTTCCCCCTTGGGG	0.582000														9			5		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485124	56485124	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56485124G>A	uc002qmh.3	+	6	2712	c.2641G>A	c.(2641-2643)Gat>Aat	p.D881N	NLRP8_uc010etg.3_Missense_Mutation_p.D862N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	881						cytoplasm	ATP binding	p.K880E(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGCCTTGAAAGATGAAGGGGC	0.502000														149			73		0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388870	1388870	+	Missense_Mutation	SNP	A	G	G	rs71299249		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1388870A>G	uc003gdf.2	+	0	3531	c.571A>G	c.(571-573)Aca>Gca	p.T191A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	191					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCGCCTGATCACACGTGCCCA	0.657000														232			29		0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255003	42255003	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42255003T>G	uc002ifl.1	+	3	1173	c.1089T>G	c.(1087-1089)ccT>ccG	p.P363P	ASB16_uc002ifm.1_Non-coding_Transcript|C17orf65_uc002ifn.3_5'UTR|C17orf65_uc021tyb.1_5'Flank	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	363					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCAACTTCCCTCGGGCCCTGG	0.592000														63			15		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991875	67991876	+	Silent	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67991875_67991876GG>AA	uc010vkj.1	-	2	460_461	c.420_421CC>TT	c.(418-423)ttcctg>ttTTtg	p.140_141FL>FL	SLC12A4_uc010ceu.2_Silent_p.132_133FL>FL|SLC12A4_uc010vkh.1_Silent_p.107_108FL>FL|SLC12A4_uc002euz.2_Silent_p.138_139FL>FL|SLC12A4_uc010vki.1_Silent_p.138_139FL>FL|SLC12A4_uc002eva.2_Silent_p.138_139FL>FL|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Silent_p.21_22FL>FL	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	138					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCAGCCGCAGGAAGAGGATAA	0.599000														1			18		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381230	147381230	+	Missense_Mutation	SNP	A	C	C	rs150084611		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:147381230A>C	uc021ovm.1	+	0	1148	c.1148A>C	c.(1147-1149)aAa>aCa	p.K383T	GJA8_uc001epu.2_Missense_Mutation_p.K383T	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	383					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGGTGAAAAAGAAGAGCCG	0.577000														12			6		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77723028	77723028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77723028C>T	uc001xtf.2	+	23	2592	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	TMEM63C_uc010asq.1_Nonsense_Mutation_p.Q794*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	794						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGCCCAGTTCCAGGAAGGGCT	0.622000														63			47		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147842	70147842	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:70147842G>A	uc004dyn.3	-	5	1023	c.849C>T	c.(847-849)tcC>tcT	p.S283S	SLC7A3_uc004dyo.3_Silent_p.S283S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	283					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCATCGGGATGGAACGCTGGG	0.522000														0			16		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334299	175334299	+	Missense_Mutation	SNP	C	T	T	rs139055042		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:175334299C>T	uc001gkp.1	-	9	2515	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	TNR_uc009wwu.1_Missense_Mutation_p.D812N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	812	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D812H(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCCTCATCCCTGGGGCTG	0.517000														33			28		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052277	90052277	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:90052277C>T	uc003kju.3	+	55	11683	c.11587C>T	c.(11587-11589)Ctt>Ttt	p.L3863F	GPR98_uc003kjt.3_Missense_Mutation_p.L1569F|GPR98_uc003kjv.3_Missense_Mutation_p.L1463F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3863	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGATGACCTTCCTGAATT	0.408000														42			31		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95556899	95556899	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95556899G>A	uc001ydw.2	-	27	5917	c.5705C>T	c.(5704-5706)tCt>tTt	p.S1902F	DICER1_uc010avh.1_Missense_Mutation_p.S800F|DICER1_uc021sbc.1_3'UTR|DICER1_uc001ydv.2_Missense_Mutation_p.S1892F|DICER1_uc001ydx.2_Missense_Mutation_p.S1902F	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1902	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCTGCTGCAGATTTGGCAAT	0.448000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					159			52		0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66625571	66625571	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:66625571A>C	uc010ujm.2	+	16	3101	c.3086A>C	c.(3085-3087)aAg>aCg	p.K1029T	DIS3L_uc002app.3_Missense_Mutation_p.K946T|DIS3L_uc010bho.3_Missense_Mutation_p.K895T	NM_001143688	NP_588616	Q8TF46	DI3L1_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA.	1029					rRNA catabolic process	cytoplasm|exosome (RNase complex)	RNA binding|exonuclease activity|protein binding|ribonuclease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCCAAACAAAGGGAAGGAGC	0.403000														46			29		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666654	12666654	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:12666654G>A	uc002gno.2	+	13	2953	c.2654G>A	c.(2653-2655)gGg>gAg	p.G885E	MYOCD_uc002gnn.2_Missense_Mutation_p.G837E|MYOCD_uc002gnq.2_Missense_Mutation_p.G561E	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	837					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACTTTGATGGGATAATGGAT	0.478000														3			47		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710580	28710580	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28710580G>A	uc002kwn.3	-	15	2844	c.2582C>T	c.(2581-2583)tCa>tTa	p.S861L	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	861					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAACCTACTGAGCCGGCCAG	0.443000														5			71		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558530	11558530	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11558530C>T	uc010xlz.2	+	11	1388	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	PRKCSH_uc002mrt.3_Missense_Mutation_p.P344L|PRKCSH_uc002mru.3_Intron|PRKCSH_uc010dyb.3_Intron	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	344					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACTGTCACCCCCGCAGCCG	0.677000														8			7		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758195	23758195	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23758195C>T	uc001bha.2	-	22	2664	c.2540G>A	c.(2539-2541)aGa>aAa	p.R847K	ASAP3_uc001bgy.1_Missense_Mutation_p.R351K|ASAP3_uc010odz.1_Missense_Mutation_p.R737K|ASAP3_uc010oea.1_Missense_Mutation_p.R838K	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	847					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAACCTGAATCTGACGGGGAG	0.587000														89			51		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1843492	1843492	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1843492T>C	uc003gdv.3	-	2	473	c.176A>G	c.(175-177)cAc>cGc	p.H59R	LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Missense_Mutation_p.H59R	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	59					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GTACACAGGGTGGATGGGAGT	0.552000														14			4		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687015	136687015	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136687015T>G	uc011edg.2	-	9	1470	c.1221A>C	c.(1219-1221)aaA>aaC	p.K407N	MAP7_uc011edf.2_Missense_Mutation_p.K362N|MAP7_uc010kgu.3_Missense_Mutation_p.K399N|MAP7_uc011edh.2_Missense_Mutation_p.K362N|MAP7_uc010kgv.3_Missense_Mutation_p.K399N|MAP7_uc010kgs.3_Missense_Mutation_p.K231N|MAP7_uc011edi.2_Missense_Mutation_p.K231N|MAP7_uc010kgq.2_Missense_Mutation_p.K283N|MAP7_uc003qgz.3_Missense_Mutation_p.K377N|MAP7_uc003qha.2_Missense_Mutation_p.K340N|MAP7_uc010kgr.2_Missense_Mutation_p.K231N	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	377	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGGCTCCACTTTGACTTCCC	0.562000														40			22		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47759202	47759202	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47759202A>C	uc001crd.1	-	7	955	c.800T>G	c.(799-801)aTt>aGt	p.I267S	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.I220S|STIL_uc010omo.1_Missense_Mutation_p.I267S|STIL_uc001crc.1_Missense_Mutation_p.I267S|STIL_uc001cre.1_Missense_Mutation_p.I267S|STIL_uc001crg.1_Missense_Mutation_p.I220S	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	267					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GATATGTGTAATTCCAGACAG	0.318000														110			7		0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141484290	141484290	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141484290G>A	uc011chj.2	-	3	678	c.602C>T	c.(601-603)gCc>gTc	p.A201V	UCP1_uc011chk.2_Missense_Mutation_p.A200V	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	201					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TTTCACAAAGGCCTCCTTCAT	0.383000														35			12		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39907865	39907865	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39907865T>C	uc021olw.1	+	40	14150	c.14150T>C	c.(14149-14151)cTt>cCt	p.L4717P	MACF1_uc021ols.1_Missense_Mutation_p.L4212P|MACF1_uc021olt.1_Missense_Mutation_p.L4215P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6283					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAGAAGCTTAATCACCAG	0.388000														80			5		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4218131	4218131	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4218131C>T	uc003smx.3	+	34	5150	c.5011C>T	c.(5011-5013)Cgg>Tgg	p.R1671W	SDK1_uc010kso.3_Missense_Mutation_p.R927W|SDK1_uc003smy.3_Missense_Mutation_p.R158W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1671	Fibronectin type-III 10.				cell adhesion	integral to membrane		p.R1671L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAAGAAGTACCGGCGCTATGA	0.527000														119			103		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954577	12954577	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12954577C>T	uc001auo.3	-	2	779	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	236										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAAGAGTTCACGAAGATTG	0.493000														62			85		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844600	128844600	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:128844600G>A	uc009zcp.3	-	19	2450	c.2450C>T	c.(2449-2451)tCc>tTc	p.S817F	ARHGAP32_uc009zcq.2_Missense_Mutation_p.S777F|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.S468F	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	817					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTAAAAAGGAAGCACCACT	0.458000														18			12		0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	420925	420925	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:420925G>A	uc002wds.3	-	5	873	c.735C>T	c.(733-735)tgC>tgT	p.C245C	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_Silent_p.C68C	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	245	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCAGTGGGTGGCAGGCCAGGA	0.562000														24			10		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504252	39504252	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:39504252G>A	uc003thb.2	+	10	2186	c.2043G>A	c.(2041-2043)gaG>gaA	p.E681E	POU6F2_uc022acb.1_Silent_p.E645E	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	681					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCCTTTGGAGCCCTTAACAG	0.463000														11			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209782	140209782	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140209782C>T	uc003lho.2	+	0	2133	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.I702I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	710					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATCATCGCCATCTGCG	0.687000														44			40		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87705671	87705671	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87705671T>G	uc003hpz.3	+	37	6558	c.6078T>G	c.(6076-6078)acT>acG	p.T2026T	PTPN13_uc003hpy.3_Silent_p.T2031T|PTPN13_uc003hqa.3_Silent_p.T2007T|PTPN13_uc003hqb.3_Silent_p.T1835T|PTPN13_uc003hqc.1_Silent_p.T392T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2026						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGTTCTACTTATCAGATAA	0.333000														12			10		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48875584	48875584	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:48875584T>C	uc003xqk.2	+	6	1503	c.677T>C	c.(676-678)cTc>cCc	p.L226P	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.L226P|MCM4_uc011ldi.2_Missense_Mutation_p.L213P|MCM4_uc010lxw.2_Non-coding_Transcript	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	226					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TACAGACAACTCATCTCTTAC	0.299000														19			3		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315771	50315771	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50315771G>A	uc001jhf.2	-	1	354	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	VSTM4_uc001jhh.2_Missense_Mutation_p.L109F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	109	Ig-like.					integral to membrane|plasma membrane		p.A108S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCCTGTAGAGCGCCCCCCGC	0.617000														1			25		0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205660	88205661	+	Missense_Mutation	DNP	CC	TT	TT	rs143863539		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:88205660_88205661CC>TT	uc003dqw.3	+	2	1175_1176	c.865_866CC>TT	c.(865-867)cca>TTa	p.P289L		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	289					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATTACCGAAACCATCTGTTAAA	0.386000														23			20		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941185	52941185	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52941185C>T	uc002pzk.3	+	3	578	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H158Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TGTCAAAACCCATATTTTTAA	0.318000														60			16		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063227	46063227	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46063227G>A	uc003cpe.3	-	2	437	c.213C>T	c.(211-213)ctC>ctT	p.L71L	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.L71L|XCR1_uc021wwx.1_Silent_p.L71L	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	71					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.L71I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCACAGGTTGAGGATGAAGA	0.577000														22			8		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9258881	9258881	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:9258881A>G	uc001qvk.1	-	9	1168	c.1055T>C	c.(1054-1056)tTt>tCt	p.F352S	A2M_uc009zgk.1_Missense_Mutation_p.F202S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	352				LSFV -> ACCS (in Ref. 6; AAH26246).	blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CACTTTCACAAATGAGAGTTT	0.398000														69			17		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131976412	131976412	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131976412C>T	uc003kxi.3	+	23	4068	c.3667C>T	c.(3667-3669)Ctc>Ttc	p.L1223F	RAD50_uc003kxh.3_Missense_Mutation_p.L1084F	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	1223	Ala/Asp-rich (DA-box).				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACGTTCTGCCTCAACTGTGG	0.478000								Homologous recombination						69			32		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422647	220422647	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220422647G>A	uc010fwk.3	-	10	4002	c.3688C>T	c.(3688-3690)Ctc>Ttc	p.L1230F	OBSL1_uc002vmh.1_Missense_Mutation_p.L221F|OBSL1_uc010zli.1_Missense_Mutation_p.L129F|OBSL1_uc010fwl.2_Missense_Mutation_p.L1230F	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1230	Ig-like 10.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGATGCAGAGGACTCGGCGG	0.711000														29			5		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740024	15740024	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15740024C>T	uc002nbi.3	+	13	1480	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	CYP4F8_uc010xoj.2_Silent_p.F285F	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	473					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGCAGAAGTTCGCGATGGCAG	0.657000														11			9		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146227	156146227	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156146227C>T	uc001fnl.3	+	14	1904	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	SEMA4A_uc009wrq.3_Silent_p.I575I|SEMA4A_uc001fnm.3_Silent_p.I575I|SEMA4A_uc001fnn.3_Silent_p.I443I|SEMA4A_uc001fno.3_Silent_p.I575I	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	575	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAACTCCATCCTGGAGCTCC	0.527000														34			25		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323335	31323335	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31323335C>T	uc010dmg.1	+	11	3578	c.3523C>T	c.(3523-3525)Ctc>Ttc	p.L1175F	ASXL3_uc002kxq.2_Missense_Mutation_p.L882F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1175					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						GTCTGCCCACCTCCGGGAGAC	0.443000														9			11		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89902106	89902106	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:89902106A>C	uc001pdf.4	+	11	1397	c.1288A>C	c.(1288-1290)Aaa>Caa	p.K430Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.K397Q|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	430	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAGAATGTCAAAATACTCCA	0.299000														10			6		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133160170	133160170	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:133160170A>G	uc003vrk.3	+	7	1306	c.1271A>G	c.(1270-1272)gAg>gGg	p.E424G	EXOC4_uc011kpo.2_Missense_Mutation_p.E323G|EXOC4_uc003vri.3_Missense_Mutation_p.E424G|EXOC4_uc003vrj.3_Missense_Mutation_p.E424G	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	424					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACTGGACGAGAGTTTGCAGCC	0.383000														139			7		0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482129	152482129	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:152482129G>A	uc022chs.1	-	0	882	c.882C>T	c.(880-882)ttC>ttT	p.F294F	MAGEA1_uc004fhf.2_Silent_p.F294F	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	294	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGATGGGAAGAAAAAGC	0.552000														2			93		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39782105	39782105	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39782105T>C	uc021olt.1	+	26	3559	c.3507T>C	c.(3505-3507)gcT>gcC	p.A1169A	MACF1_uc021ols.1_Silent_p.A1169A|MACF1_uc001cdc.2_Silent_p.A1169A|MACF1_uc001cda.1_Silent_p.A1077A|MACF1_uc009vvq.1_Silent_p.A226A|MACF1_uc001cdb.1_Silent_p.A256A	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1169					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACAGGATGCTGAACTCTTGG	0.428000														217			11		0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111899363	111899363	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111899363A>C	uc001pmo.3	+	3	1165	c.506_splice	c.e3+1	p.K169_splice	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Splice_Site_p.K113_splice	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	169					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ACAGTTGGCAAGTGAGTAGTG	0.413000														17			16		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138400601	138400601	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138400601T>G	uc003vuf.3	-	18	2403	c.2165A>C	c.(2164-2166)cAc>cCc	p.H722P	ATP6V0A4_uc003vug.3_Missense_Mutation_p.H722P|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.H722P	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	722					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATGGCTTGGTGGACAAAGAC	0.463000														105			19		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113298	161113298	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161113298G>A	uc003lyu.2	+	1	439	c.101G>A	c.(100-102)cGg>cAg	p.R34Q		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	34					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACGTCAGTCGGATCCTGGAC	0.483000										TCGA Ovarian(5;0.080)				23			27		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749709	91749709	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91749709A>C	uc010aty.3	-	25	4748	c.4594T>G	c.(4594-4596)Tcc>Gcc	p.S1532A	CCDC88C_uc001xzj.3_Missense_Mutation_p.S56A|CCDC88C_uc001xzi.3_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1532					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGGGGGTGGAGTTGGAAGGG	0.652000														37			12		0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36687915	36687915	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36687915A>C	uc002xho.4	+	4	1050	c.648A>C	c.(646-648)aaA>aaC	p.K216N		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	216										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATTGGAAAAAATAACAGGTG	0.458000														75			22		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346877	346877	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:346877G>A	uc002kkm.3	-	4	960	c.745C>T	c.(745-747)Ctt>Ttt	p.L249F		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	249					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.L249I(2)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGGCTTGAAGAAAAACCTGC	0.517000														44			52		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745168	124745168	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124745168A>C	uc001qbc.3	+	13	2404	c.2235A>C	c.(2233-2235)caA>caC	p.Q745H	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	745	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCAAGGTGCAAGCCCAAGGCC	0.577000														47			21		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100238580	100238580	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:100238580C>T	uc003knk.3	-	0	408	c.80G>A	c.(79-81)aGa>aAa	p.R27K	ST8SIA4_uc003knl.3_Missense_Mutation_p.R27K	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	27					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTCCTCAGTTCTTGCTATTTC	0.428000														18			12		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104471636	104471636	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104471636T>G	uc001yom.4	+	14	1637	c.1607T>G	c.(1606-1608)tTg>tGg	p.L536W	TDRD9_uc001yon.4_Missense_Mutation_p.L274W	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	536	Helicase C-terminal.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGCACGATCTTGAAAGTGAAA	0.453000														57			5		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230339	56230339	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56230339G>A	uc010rjj.2	-	0	539	c.539C>T	c.(538-540)cCc>cTc	p.P180L	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D179Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GATGAGAGGGGGATCTGCACA	0.413000														39			8		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115858560	115858560	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:115858560A>T	uc003ibu.3	-	4	2000	c.1321T>A	c.(1321-1323)Tgg>Agg	p.W441R	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	441	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGAATACCCCAGACCTTCTTC	0.498000														14			47		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968623	69968623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69968623C>T	uc001suy.3	+	9	1925	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	FRS2_uc001suz.3_Missense_Mutation_p.A472V|FRS2_uc009zrj.3_Missense_Mutation_p.A472V|FRS2_uc009zrk.3_Missense_Mutation_p.A472V	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	472					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGCTGTATGCCGTGATAGAC	0.483000														144			36		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105367188C>T	uc003ylx.1	+	2	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000														29			23		0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49021605	49021605	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49021605A>G	uc010nin.1	+	4	632	c.585A>G	c.(583-585)cgA>cgG	p.R195R	MAGIX_uc004dmt.2_Silent_p.R119R|MAGIX_uc010nio.1_Silent_p.R119R|MAGIX_uc004dmu.2_Silent_p.R136R|MAGIX_uc004dmw.2_Silent_p.R128R	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	195	PDZ.																AGCGGATCCGAGCTGGAGGCC	0.652000														4			3		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254450	18254450	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:18254450A>G	uc001ipo.2	+	3	855	c.582A>G	c.(580-582)atA>atG	p.I194M	SLC39A12_uc001ipn.2_Missense_Mutation_p.I194M|SLC39A12_uc001ipp.2_Missense_Mutation_p.I194M|SLC39A12_uc010qck.1_Missense_Mutation_p.I60M	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	194					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATCTGGAATAGTGAGCAGTG	0.388000														85			7		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149681697	149681697	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149681697C>T	uc003lrv.2	-	0	829	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	80						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTGACCCCCTTGGCCGCCA	0.612000														8			10		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957473	57957473	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57957473G>A	uc001sor.1	+	2	496	c.288G>A	c.(286-288)atG>atA	p.M96I	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	96	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACATACCATGGAGGTGAGGG	0.493000														2			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458155	179458155	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179458155C>T	uc021vsy.1	-	247	51301	c.51076G>A	c.(51076-51078)Gac>Aac	p.D17026N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D10721N|TTN_uc021vta.1_Missense_Mutation_p.D10654N|TTN_uc021vtb.1_Missense_Mutation_p.D10529N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17953	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17026S(1)		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)			AATGCAGAGTCTTTGGTAACT	0.378000														30			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553827	179553827	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179553827T>G	uc021vsy.1	-	121	28541	c.28316A>C	c.(28315-28317)aAa>aCa	p.K9439T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6100T|TTN_uc010fre.1_Missense_Mutation_p.K550T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10366	Ig-like 77.						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)			CACTGCAACTTTCTCCTCTGG	0.408000														54			13		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754839	5754839	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:5754839A>C	uc003zjl.4	+	14	1683	c.1492_splice	c.e14-2	p.E498_splice	KIAA1432_uc003zjh.3_Splice_Site_p.E456_splice|KIAA1432_uc003zji.3_Splice_Site_p.E456_splice|KIAA1432_uc003zjj.1_Splice_Site	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	535						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ttttattttaaGGAGCAAAAT	0.294000														29			10		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347680	65347680	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65347680T>C	uc001oeo.4	+	4	706	c.441T>C	c.(439-441)gcT>gcC	p.A147A		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	147										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGTGCAGGCTGAGCTGAGCC	0.662000														70			8		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858183	23858183	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23858183C>T	uc001wjv.3	-	28	4131	c.4060G>A	c.(4060-4062)Gag>Aag	p.E1354K	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1354					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTTGGCCTCTGTCTCCTCC	0.672000														36			20		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107419009	107419009	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:107419009C>T	uc004enw.4	-	28	2811	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E	COL4A6_uc004env.4_Missense_Mutation_p.G902E|COL4A6_uc011msn.2_Missense_Mutation_p.G902E|COL4A6_uc010npk.3_Missense_Mutation_p.G902E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	903	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.F903F(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCTACGAATCCAACAGACCC	0.438000									Alport syndrome with Diffuse Leiomyomatosis					0			17		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41057250	41057250	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41057250C>T	uc003jmj.4	-	8	1370	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	HEATR7B2_uc003jmi.4_Intron|HEATR7B2_uc021xxt.1_Missense_Mutation_p.E294K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	294							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATTTCATTTTCCTTTACTGGA	0.403000														43			8		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37381772	37381772	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37381772A>C	uc003jkv.3	+	2	218	c.160A>C	c.(160-162)Agt>Cgt	p.S54R	WDR70_uc010iva.1_Missense_Mutation_p.S54R	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	54										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGAAAGAAGTCGCAAAAC	0.353000														83			5		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947219	145947219	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145947219A>C	uc003zdv.4	-	4	2082	c.1826T>G	c.(1825-1827)cTt>cGt	p.L609R		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ATGTTGAATAAGGGTTGACTT	0.478000														44			13		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149776370	149776370	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149776370C>T	uc003lry.3	+	23	4415	c.4307C>T	c.(4306-4308)cCa>cTa	p.P1436L	TCOF1_uc003lrz.3_Missense_Mutation_p.P1398L|TCOF1_uc011dch.2_Missense_Mutation_p.P1399L|TCOF1_uc003lrx.3_Missense_Mutation_p.P1360L|TCOF1_uc003lsa.3_Missense_Mutation_p.P1359L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1436					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGCAACCCAAAGAGCAAG	0.602000														5			3		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	C	C	rs151151026	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000														86			5		0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900173	41900173	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41900173A>G	uc003orl.3	+	6	1379	c.1043A>G	c.(1042-1044)aAg>aGg	p.K348R		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	348					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCTGGATAAGAAGTATGCA	0.562000														209			7		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086844	101086844	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:101086844C>T	uc003dut.3	-	7	919	c.808G>A	c.(808-810)Gga>Aga	p.G270R	SENP7_uc003duu.3_Missense_Mutation_p.G205R|SENP7_uc003duv.3_Missense_Mutation_p.G237R|SENP7_uc003duw.3_Missense_Mutation_p.G204R|SENP7_uc003dux.3_Missense_Mutation_p.G106R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	270					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTCTACTTCCACTGTTAAGG	0.348000														16			14		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36004040	36004040	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36004040A>C	uc002nzm.4	-	0	521	c.338T>G	c.(337-339)aTt>aGt	p.I113S	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Missense_Mutation_p.I113S|DMKN_uc002nzn.4_Missense_Mutation_p.I113S|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.I113S|DMKN_uc002oaa.4_Missense_Mutation_p.I113S|DMKN_uc002oab.4_Missense_Mutation_p.I113S|DMKN_uc002oac.4_Missense_Mutation_p.I113S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	113	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTCTGCCAATCTCGTGCCC	0.612000														51			17		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641516	57641516	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57641516G>A	uc002qny.3	+	3	1829	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	USP29_uc021vci.1_Silent_p.Q491Q	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	491					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K490T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGTAAGCAGAAGAGTTGTG	0.388000														130			51		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505054	102505054	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102505054T>A	uc001yks.2	+	58	11239	c.11075T>A	c.(11074-11076)cTc>cAc	p.L3692H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3692	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCACCAGATCTCTGTTCCCGG	0.453000														90			36		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63468164	63468164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:63468164C>T	uc001xfx.3	-	3	369	c.318G>A	c.(316-318)tgG>tgA	p.W106*	KCNH5_uc001xfy.3_Nonsense_Mutation_p.W106*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.W48*|KCNH5_uc001xga.3_Nonsense_Mutation_p.W48*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	106	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCATATAAAACCAAACAGGGG	0.433000														19			16		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392669	79392669	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:79392669C>T	uc001diq.4	-	7	1141	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	329	Poly-Glu.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATGACTCTTTCCTCCTCTTCA	0.323000														24			21		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043921	56043921	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56043921C>T	uc001nio.1	+	0	807	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L268L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CAATCCTCTTCATGTATGTGA	0.423000														103			92		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4751074	4751074	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4751074T>C	uc002cxj.2	-	10	1476	c.1181A>G	c.(1180-1182)aAg>aGg	p.K394R	ANKS3_uc010uxr.2_5'Flank|ANKS3_uc002cxh.2_5'Flank|ANKS3_uc002cxi.2_Missense_Mutation_p.K321R|ANKS3_uc021tcj.1_Missense_Mutation_p.K265R|ANKS3_uc021tck.1_Missense_Mutation_p.K287R|ANKS3_uc002cxk.3_Missense_Mutation_p.K265R|ANKS3_uc010uxs.2_Missense_Mutation_p.K321R|ANKS3_uc002cxm.3_Missense_Mutation_p.K188R	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	394										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GTCAGGATTCTTGGTCTTCAT	0.577000														154			11		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160602335	160602335	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160602335C>T	uc002uax.3	+	3	523	c.401C>T	c.(400-402)tCa>tTa	p.S134L	MARCH7_uc010foq.3_Missense_Mutation_p.S134L|MARCH7_uc010zcn.2_Intron|MARCH7_uc010for.3_Missense_Mutation_p.S96L|MARCH7_uc002uay.3_5'Flank	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	134	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTACTTGGATCATTTGGAACA	0.358000														8			14		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392062	178392062	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178392062A>G	uc003mjo.2	+	4	958	c.657A>G	c.(655-657)agA>agG	p.R219R	ZNF454_uc010jkz.2_Silent_p.R219R|ZNF454_uc021yjc.1_Silent_p.R219R	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATGAATGTAGAGAATGTGGGA	0.358000														23			25		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341256	240341256	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240341256A>C	uc010pye.2	+	2	2043	c.1818A>C	c.(1816-1818)caA>caC	p.Q606H	FMN2_uc010pyd.2_Missense_Mutation_p.Q606H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	606					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)			CAGTTAGTCAACCCACACACT	0.418000														39			9		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10955434	10955434	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:10955434A>C	uc003mzo.3	+	23	2336	c.2040A>C	c.(2038-2040)gaA>gaC	p.E680D	SYCP2L_uc010jow.3_Missense_Mutation_p.E300D	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	680						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CAATAACAGAAGAAAGAGAGT	0.448000											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			23		0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26993660	26993660	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26993660C>T	uc001isv.3	+	2	263	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	PDSS1_uc001isw.3_Missense_Mutation_p.R73C	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	73				CR -> YS (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	p.R73S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAATGTATGTCGTATATCACG	0.289000														34			28		0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6501237	6501237	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6501237C>T	uc001mdk.3	-	2	412	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ARFIP2_uc010ran.2_Missense_Mutation_p.G54D|ARFIP2_uc010ral.2_Missense_Mutation_p.G16D|ARFIP2_uc010ram.2_Missense_Mutation_p.A9T|ARFIP2_uc009yfe.2_Missense_Mutation_p.G54D|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	NM_012402	NP_001229784	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 2, mRNA.	54					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCCCATAGCCACCAGACAC	0.527000														95			90		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137537132	137537132	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137537132G>A	uc003lcl.3	-	4	452	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	141					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTTTTTCCAGGGGGCCTAGG	0.383000														17			11		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553242	140553242	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140553242G>A	uc003lit.3	+	0	1000	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	276	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAATGGGGAAATAGCCTA	0.458000														26			21		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746174	94746175	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:94746174_94746175GG>AA	uc022aye.1	-	0	2464_2465	c.2464_2465CC>TT	c.(2464-2466)cct>TTt	p.P822F	RBM12B_uc003yfz.3_Missense_Mutation_p.P822F	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	822							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCATCAGGAGGGTGCCTAAAG	0.574000														47			39		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217824497	217824497	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:217824497A>C	uc001hlh.1	+	2	243	c.217A>C	c.(217-219)Aag>Cag	p.K73Q	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	73	IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTTAGGCAGAAAGCAATATCA	0.289000														29			17		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549387	127549387	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127549387A>C	uc004bov.3	+	1	337	c.224A>C	c.(223-225)tAc>tCc	p.Y75S	OLFML2A_uc010mwr.1_Missense_Mutation_p.Y75S	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	75										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGGACTTCTACACGGTGGAG	0.632000														44			4		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169223	53169223	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53169223A>C	uc001sax.3	-	1	818	c.764T>G	c.(763-765)cTg>cGg	p.L255R		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	255	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTCCCTCCAGGTTCCCCCT	0.542000														45			43		0	0	1	0	0
APOC3	345	broad.mit.edu	37	11	116703513	116703513	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116703513A>C	uc001ppt.1	+	3	259	c.213A>C	c.(211-213)aaA>aaC	p.K71N		NM_000040	NP_000031	P02656	APOC3_HUMAN	Homo sapiens apolipoprotein C-III (APOC3), mRNA.	71	Lipid-binding.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTTCCCTGAAAGACTACTGGA	0.547000														4			61		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18323328	18323328	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:18323328G>A	uc004cyl.2	-	6	651	c.494C>T	c.(493-495)cCa>cTa	p.P165L	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P165L|SCML2_uc011miz.1_Missense_Mutation_p.P99L	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	165					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGGGGCTTTGGTGGTTCCTA	0.363000														35			31		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485496	60485496	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60485496G>A	uc002ybn.2	+	8	1295	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	CDH4_uc002ybr.2_Missense_Mutation_p.E366K|CDH4_uc002ybp.2_Missense_Mutation_p.E329K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	403	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding	p.E403K(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGTCCCCGAAAACCGCGT	0.522000														19			18		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233350730	233350730	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233350730C>T	uc002vsv.2	-	1	839	c.634G>A	c.(634-636)Gac>Aac	p.D212N	ECEL1_uc010fya.1_Missense_Mutation_p.D212N|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	212					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGCCCAGGTCCCAGCCCCCG	0.711000														7			13		0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649471	154649471	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:154649471T>C	uc003int.3	-	3	662	c.289A>G	c.(289-291)Acg>Gcg	p.T97A	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	97						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				AATTTTATCGTGAAATATAAG	0.458000														74			22		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385117	62385117	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:62385117C>T	uc003dll.2	-	29	4386	c.4026G>A	c.(4024-4026)atG>atA	p.M1342I	CADPS_uc003dlj.1_Missense_Mutation_p.M297I|CADPS_uc003dlk.1_Missense_Mutation_p.M790I|CADPS_uc003dlm.2_Missense_Mutation_p.M1303I|CADPS_uc003dln.2_Missense_Mutation_p.M1263I|CADPS_uc021wzv.1_Missense_Mutation_p.M1333I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1342	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCTGTCCTTCATGCTGATGC	0.507000														80			37		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511296	4511296	+	Silent	SNP	A	G	G	rs71263980		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4511296A>G	uc002mar.1	-	2	2634	c.2634T>C	c.(2632-2634)acT>acC	p.T878T	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	878	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTTAGTGCCAGTCAGGACAG	0.607000														146			21		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643791	52643791	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52643791T>G	uc003des.2	-	15	2117	c.2105A>C	c.(2104-2106)aAg>aCg	p.K702T	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.K702T|PBRM1_uc003der.2_Missense_Mutation_p.K670T|PBRM1_uc003det.2_Missense_Mutation_p.K717T|PBRM1_uc003deu.2_Missense_Mutation_p.K717T|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.K702T|PBRM1_uc010hmk.1_Missense_Mutation_p.K702T|PBRM1_uc003dey.2_Missense_Mutation_p.K702T|PBRM1_uc003dez.1_Missense_Mutation_p.K702T|PBRM1_uc003dfb.1_Missense_Mutation_p.K615T|PBRM1_uc003dfa.1_Missense_Mutation_p.K48T|PBRM1_uc003dfc.3_Missense_Mutation_p.K69T	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	702	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCCATGGGCTTTTTAATAGT	0.418000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									79			10		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150048344	150048344	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150048344A>C	uc001etp.3	+	3	896	c.323A>C	c.(322-324)aAg>aCg	p.K108T	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Missense_Mutation_p.K72T|VPS45_uc010pbs.2_Missense_Mutation_p.K72T|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Missense_Mutation_p.K108T|VPS45_uc010pbr.1_Missense_Mutation_p.K72T	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	108					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTGACGTGAAGTCATTGGCT	0.403000														72			29		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	T	T	rs145110689		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178408731C>T	uc003mjr.3	-	9	2740	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_uc003mjq.3_Missense_Mutation_p.R257Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	854					detection of visible light|visual perception	integral to plasma membrane		p.R854*(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000														41			33		0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72520948	72520948	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:72520948A>G	uc004ahl.3	+	5	651	c.586A>G	c.(586-588)Aga>Gga	p.R196G	C9orf135_uc011lrw.2_3'UTR|C9orf135_uc010moq.3_Missense_Mutation_p.R88G|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_3'UTR	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	196						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TGGTTCTAAAAGATTTGGCAT	0.398000														52			4		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344947	23344947	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23344947A>G	uc001whd.3	+	4	1343	c.790A>G	c.(790-792)Agt>Ggt	p.S264G	LRP10_uc001whe.3_Missense_Mutation_p.S140G	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	264	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACTACTGCGTAGTCTCACCCA	0.602000														28			13		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845853	24845853	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24845853C>T	uc001wpc.3	+	8	2731	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.P867S|NFATC4_uc010tol.2_Missense_Mutation_p.P867S|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.P817S|NFATC4_uc010ton.2_Missense_Mutation_p.P817S|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.P836S|NFATC4_uc010top.2_Missense_Mutation_p.P836S|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.P734S|NFATC4_uc010tot.2_Missense_Mutation_p.P792S|NFATC4_uc010tou.2_Missense_Mutation_p.P734S|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.P792S|NFATC4_uc010tox.2_Missense_Mutation_p.P734S|NFATC4_uc001wpd.3_Missense_Mutation_p.P339S|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.P339S|NFATC4_uc010tpa.2_Missense_Mutation_p.P92S|NFATC4_uc010tpb.2_Missense_Mutation_p.P92S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	804	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTGGGGCTGCCATTCTCTCC	0.637000														100			49		0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109198284	109198284	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109198284T>G	uc001dvt.4	-	3	425	c.187A>C	c.(187-189)Agg>Cgg	p.R63R	HENMT1_uc001dvu.4_Silent_p.R63R|HENMT1_uc009wer.3_Silent_p.R63R	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	63					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TTTAGCAGCCTTAAGAGTGAA	0.353000														27			5		0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37247321	37247321	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:37247321T>C	uc003onn.3	+	2	501	c.355T>C	c.(355-357)Tcg>Ccg	p.S119P	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	119						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GTCAACGACATCGGACGTCCC	0.502000														58			17		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642270	196642270	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196642270T>G	uc001gtj.4	+	1	461	c.221T>G	c.(220-222)cTt>cGt	p.L74R	CFH_uc001gti.4_Missense_Mutation_p.L74R|CFH_uc009wyw.3_Missense_Mutation_p.L74R|CFH_uc009wyx.3_Missense_Mutation_p.L74R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGTTGCTCTTAATCCATTA	0.338000														73			13		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419980	41419980	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:41419980C>T	uc002xkg.3	-	2	525	c.341G>A	c.(340-342)aGg>aAg	p.R114K	PTPRT_uc010ggj.3_Missense_Mutation_p.R114K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	114	MAM.				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	p.R114K(2)		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)				TGGGCTGGACCTGTCACGGCT	0.602000														37			26		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619717	37619717	+	Silent	SNP	C	T	T	rs147756598		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37619717C>T	uc002ofl.3	+	4	2039	c.1824C>T	c.(1822-1824)atC>atT	p.I608I		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCAGAGAATCCATACTGGTG	0.443000														33			23		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903870	129903870	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:129903870G>A	uc001lke.3	-	12	6429	c.6234C>T	c.(6232-6234)ggC>ggT	p.G2078G	MKI67_uc001lkf.3_Silent_p.G1718G|MKI67_uc009yav.1_Silent_p.G1653G|MKI67_uc009yaw.1_Silent_p.G1228G	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2078	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTCTTTGAAGCCGGCCAGGT	0.498000														18			148		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56395811	56395811	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:56395811G>A	uc010bfn.3	-	4	459	c.459C>T	c.(457-459)atC>atT	p.I153I	RFX7_uc010ugk.1_5'Flank|RFX7_uc002adn.1_5'Flank	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	56					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGTTTTTCATGATCTTTCCAA	0.393000														1			4		0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55655720	55655720	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:55655720G>A	uc001xbs.3	-	1	395	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	DLGAP5_uc001xbt.3_Missense_Mutation_p.L60F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	60					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCAACAAGAATTCTACCT	0.348000														27			22		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1919990	1919990	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1919990T>G	uc001aim.1	-	3	413	c.257A>C	c.(256-258)aAg>aCg	p.K86T	KIAA1751_uc009vkz.1_Missense_Mutation_p.K86T|KIAA1751_uc001ain.1_Missense_Mutation_p.K86T	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	86										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	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;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTCATGCATCTTATCCAGGGC	0.532000														107			13		0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56533809	56533809	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:56533809G>A	uc002ejd.2	-	11	1642	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	470					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCAAATACATGAAACTGGGTG	0.428000									Bardet-Biedl syndrome					3			51		0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145699064	145699064	+	Silent	SNP	A	G	G	rs140033267		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145699064A>G	uc001eol.1	-	4	645	c.427T>C	c.(427-429)Ttg>Ctg	p.L143L	CD160_uc001eom.1_Silent_p.L34L|CD160_uc010oyz.1_Non-coding_Transcript	NM_007053	NP_008984	O95971	BY55_HUMAN	Homo sapiens CD160 molecule (CD160), mRNA.	143					cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CTTTGTTTCAATCCCGTCACT	0.448000														47			11		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214629	3214629	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3214629G>A	uc010zqe.2	-	5	797	c.672C>T	c.(670-672)acC>acT	p.T224T	SLC4A11_uc002wig.3_Silent_p.T197T|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.T181T	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	197					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCCCTTGGATGGTATCTGACA	0.657000														66			50		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75884836	75884836	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:75884836C>T	uc021zbv.1	-	11	2663	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.G876G|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	876	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGTATTGTGTCCCTTCCTTCA	0.493000														10			117		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368839	22368839	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22368839G>C	uc010tzu.2	+	0	362	c.264G>C	c.(262-264)gaG>gaC	p.E88D	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V87L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTTGTGGAGAGGAAGATAA	0.443000														213			67		0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739707	46739707	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:46739707G>A	uc021vgv.1	-	0	144	c.144C>T	c.(142-144)acC>acT	p.T48T	ATP6V1E2_uc002ruy.3_Silent_p.T48T	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	48					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTCGTTGGGTTTGCACGA	0.458000														83			24		0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907094	101907094	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:101907094T>C	uc004azc.3	+	5	1130	c.1054T>C	c.(1054-1056)Tta>Cta	p.L352L	TGFBR1_uc004azd.3_Silent_p.L275L|TGFBR1_uc004aze.3_Silent_p.L356L|TGFBR1_uc011lvc.2_Silent_p.L283L	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	352	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TATTGCAGACTTAGGACTGGC	0.353000														54			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500897	179500897	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179500897T>G	uc021vsy.1	-	174	33922	c.33697A>C	c.(33697-33699)Agc>Cgc	p.S11233R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S4928R|TTN_uc021vta.1_Missense_Mutation_p.S4861R|TTN_uc021vtb.1_Missense_Mutation_p.S4736R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12160	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)			AACTCGCAGCTCAAGTACAAT	0.453000														17			12		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727622	13727622	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13727622G>A	uc003jfd.2	-	69	12069	c.12027C>T	c.(12025-12027)atC>atT	p.I4009I	DNAH5_uc003jfc.2_Silent_p.I177I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4009					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACCTGGGCGATGGTTCTGT	0.338000									Kartagener syndrome					55			16		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468181	468181	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:468181T>G	uc002wdw.1	-	11	1256	c.863A>C	c.(862-864)gAa>gCa	p.E288A	CSNK2A1_uc002wdx.1_Missense_Mutation_p.E288A|CSNK2A1_uc002wdy.1_Missense_Mutation_p.E152A	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	288	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GTGCTGATTTTCACTGTGGAC	0.527000														65			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255384	140255384	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140255384C>T	uc003lic.2	+	0	454	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.I109I	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.537000														83			64		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114514536	114514536	+	Missense_Mutation	SNP	G	A	A	rs147397910	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114514536G>A	uc001eem.3	+	14	3265	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	HIPK1_uc001eel.3_Missense_Mutation_p.R1035H|HIPK1_uc001een.3_Missense_Mutation_p.R1035H|HIPK1_uc001eeo.3_Missense_Mutation_p.R661H|HIPK1_uc001eep.3_Missense_Mutation_p.R641H|HIPK1_uc001eeq.3_Missense_Mutation_p.R327H	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1035	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGCTCAACGCGGGGGGACC	0.527000														62			4		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398442	47398442	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47398442C>T	uc001cqp.4	-	10	1406	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	CYP4A11_uc001cqq.2_Missense_Mutation_p.G452E	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	452					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.G452E(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCTTGATCCTCCTGAGAAGGG	0.507000														166			264		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382455	41382455	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41382455A>C	uc003jmm.1	-	1	387	c.285T>G	c.(283-285)ttT>ttG	p.F95L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	95	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCGAAGATCAAAATAACGAA	0.448000														94			5		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413732	22413732	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22413732G>A	uc001yuf.3	+	0	271	c.31G>A	c.(31-33)Gta>Ata	p.V11I	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGAGAAGAAGGTAATCTCCTA	0.498000														180			76		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27182870	27182870	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:27182870T>A	uc003syn.2	-	0	418	c.357A>T	c.(355-357)aaA>aaT	p.K119N	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	119					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TTAGGGAGTTTTTCCCGCCGT	0.721000														40			13		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2851596	2851596	+	Missense_Mutation	SNP	T	G	G	rs147914800		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2851596T>G	uc002lwo.3	+	2	399	c.261T>G	c.(259-261)atT>atG	p.I87M	ZNF555_uc002lwn.4_Missense_Mutation_p.I87M	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGAAAAATTTGGGACAGTC	0.408000														44			11		0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9642361	9642361	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9642361C>T	uc001apw.3	+	6	991	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.	256					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCAGAAGTCATAAGGACGA	0.507000														48			33		0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132484531	132484532	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:132484531_132484532CC>TT	uc004byh.3	+	3	889_890	c.662_663CC>TT	c.(661-663)ccc>cTT	p.P221L		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	Homo sapiens paired related homeobox 2 (PRRX2), mRNA.	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGCTCAGGCCCCGCAACCCCAG	0.629000														21			18		0	0	1	0	0
FAM75D3	389762	broad.mit.edu	37	9	84562508	84562508	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84562508C>A	uc010mpt.2	+	3	2426	c.2340C>A	c.(2338-2340)aaC>aaA	p.N780K	AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank	NM_207416	NP_997299	P0C874	YI039_HUMAN	Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA.	780						integral to membrane											CCCCAAAAAACCATCTCTTGC	0.478000														35			9		0.00829132	0.0082953	1	1	0
NUP107	57122	broad.mit.edu	37	12	69114917	69114917	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69114917A>T	uc001suf.3	+	14	1386	c.1271A>T	c.(1270-1272)gAg>gTg	p.E424V	NUP107_uc001sug.3_Missense_Mutation_p.E271V|NUP107_uc010stj.2_Missense_Mutation_p.E395V	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	424					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGATACGAGAGAGCAATT	0.274000														189			5		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24183669	24183669	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24183669G>A	uc002dmd.3	+	10	1515	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	PRKCB_uc002dme.3_Missense_Mutation_p.E440K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	440	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCGGTTCAAGGAGCCCCATGC	0.512000														7			14		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813489	101813489	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:101813489G>A	uc003knn.3	-	2	865	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.F231F|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	231						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAAGGATGAAGAAAGACAGGT	0.378000														49			29		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167973186	167973186	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167973186T>C	uc001gew.3	+	8	1429	c.1076T>C	c.(1075-1077)gTt>gCt	p.V359A	DCAF6_uc001gex.3_Missense_Mutation_p.V359A|DCAF6_uc010plk.2_Missense_Mutation_p.V328A|DCAF6_uc001gev.3_Missense_Mutation_p.V359A|DCAF6_uc001gey.3_Missense_Mutation_p.V212A	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	359					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCAAGTGAGGTTGCACAAAGC	0.383000														21			17		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33463897	33463897	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33463897A>C	uc003jhy.3	+	16	2170	c.1875A>C	c.(1873-1875)ccA>ccC	p.P625P	TARS_uc010iup.1_Silent_p.P566P|TARS_uc011coc.2_Silent_p.P646P|TARS_uc003jhz.3_Silent_p.P521P|TARS_uc011cod.2_Silent_p.P504P	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	625					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGTAGTTCCAGTGGGACCAA	0.408000														20			3		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555223	182555223	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:182555223T>G	uc009wxz.2	-	1	976	c.719A>C	c.(718-720)aAg>aCg	p.K240T	RNASEL_uc001gpk.3_Missense_Mutation_p.K240T|RNASEL_uc009wya.1_Missense_Mutation_p.K240T	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	240	2-5A binding (P-loop) 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGGGGAGTCTTCCCTCTTTC	0.522000														73			14		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57966372	57966372	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57966372C>T	uc001sor.1	+	14	1787	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	KIF5A_uc010srr.1_Silent_p.L438L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	527					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGCCACCATGCTGTCCCTGGA	0.602000														2			29		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577756	42577756	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:42577756G>A	uc003clf.2	+	12	1481	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	VIPR1_uc021wwl.1_Missense_Mutation_p.E412K|VIPR1_uc011azn.2_Missense_Mutation_p.E426K|VIPR1_uc011azl.1_Missense_Mutation_p.E405K|VIPR1_uc011azm.1_Missense_Mutation_p.E243K|VIPR1_uc003clg.2_Missense_Mutation_p.E98K	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	453					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTTCCAAGCCGAAGTCTCCCT	0.721000														4			7		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27346424	27346424	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:27346424G>A	uc003cdt.2	-	12	1116	c.842C>T	c.(841-843)cCc>cTc	p.P281L		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	281							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTCACCTGGGGCTCTGCACA	0.512000														19			14		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308628	117308628	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117308628G>A	uc001prh.1	-	24	4597	c.4595C>T	c.(4594-4596)gCc>gTc	p.A1532V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1472	Fibronectin type-III 6.				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)		GTGGGTCTTGGCCTCGATGAT	0.647000														2			16		0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52130706	52130706	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52130706G>A	uc003dcu.3	-	9	1322	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	POC1A_uc003dcv.3_Missense_Mutation_p.P297L|POC1A_uc003dcw.3_Intron	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	335						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTGCCTGGGGGGACAGGGAA	0.552000														102			41		0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74720107	74720107	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74720107A>G	uc002jso.3	-	2	876	c.552T>C	c.(550-552)acT>acC	p.T184T	JMJD6_uc002jsn.1_Silent_p.T184T|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	184	JmjC.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	p.G183E(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TGTGAATCCCAGTTCCGGAGC	0.502000														98			7		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256868	63256868	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:63256868G>A	uc011cqt.2	-	0	679	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	227					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R227H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACCGTCTTGCGGATGCGGAAG	0.582000														43			34		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328686	48328686	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48328686G>A	uc010rhu.2	+	0	912	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K303T(2)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGTCAAGAGGAGCTTAGGGG	0.418000														13			16		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657380	143657380	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143657380C>T	uc003wds.1	+	0	361	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTCCCTGGCCTTGGGTGGG	0.532000														58			57		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135851207	135851207	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:135851207A>G	uc010fnf.3	+	4	349	c.306A>G	c.(304-306)caA>caG	p.Q102Q	RAB3GAP1_uc002tuj.3_Silent_p.Q102Q|RAB3GAP1_uc010fng.3_5'UTR|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	102						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.Q102H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AATCTATGCAAGATTTGCTGG	0.353000														60			25		0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77791234	77791234	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77791234C>T	uc001xtj.3	+	1	319	c.37C>T	c.(37-39)Cga>Tga	p.R13*	GSTZ1_uc001xtk.3_Nonsense_Mutation_p.R13*|GSTZ1_uc010ass.3_5'UTR|GSTZ1_uc001xtm.3_5'UTR	NM_145870	NP_001504	O43708	MAAI_HUMAN	Homo sapiens glutathione transferase zeta 1 (GSTZ1), transcript variant 1, mRNA.	13	GST N-terminal.				L-phenylalanine catabolic process|glutathione metabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TTCCTATTTCCGAAGCTCCTG	0.562000														36			34		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221200	43221200	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43221200A>G	uc002lbe.3	+	7	1834	c.1018A>G	c.(1018-1020)Acc>Gcc	p.T340A	SLC14A2_uc002lbb.3_Missense_Mutation_p.T340A|SLC14A2_uc010dnj.3_Missense_Mutation_p.T340A	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	340						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCTTCGAGACCATCTACAC	0.582000														14			5		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014733	83014733	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83014733C>T	uc003uhy.2	-	15	2373	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	SEMA3E_uc022agy.1_Silent_p.K524K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	584	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTTCTTCAGTCTTATCCAAAG	0.368000														65			53		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402774	90402775	+	Missense_Mutation	DNP	GG	AA	AA	rs115049681	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90402774_90402775GG>AA	uc003pnn.1	-	62	10090_10091	c.9974_9975CC>TT	c.(9973-9975)tcc>tTT	p.S3325F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3325					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGAACCAGGGACTCGTAGGC	0.569000														3			22		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605047	47605047	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47605047A>C	uc002xtx.4	+	17	2533	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	ARFGEF2_uc010zyf.2_Missense_Mutation_p.K87T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	794			K -> E (in a breast cancer sample; somatic mutation).		exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	p.K794E(2)|p.T793R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAATGACGAAAGAGCAGTAT	0.299000														61			15		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113440866	113440866	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:113440866A>C	uc001tuj.3	+	5	1278	c.1138A>C	c.(1138-1140)Aac>Cac	p.N380H	OAS2_uc001tui.1_Missense_Mutation_p.N380H	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	380	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTTAAAGAAAACTGCTTCCG	0.443000														120			95		0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141471529	141471529	+	Nonstop_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141471529A>C	uc003iik.3	+	8	1014	c.882A>C	c.(880-882)taA>taC	p.*294Y		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.	0					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAAAAGTATAAATCATCCACT	0.269000														13			6		0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705998	41705998	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:41705998A>G	uc001uxu.1	-	0	939	c.650T>C	c.(649-651)cTg>cCg	p.L217P	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	217							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGCCAGGGTCAGATCTGCTAG	0.582000														66			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745836	140745836	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140745836G>A	uc003lju.2	+	0	1939	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.E647K	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGTCGAAGACCATGG	0.652000														70			50		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1793462	1793462	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1793462C>T	uc010uvl.2	+	4	852	c.732C>T	c.(730-732)tcC>tcT	p.S244S	MAPK8IP3_uc002cmi.1_Silent_p.S243S|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Silent_p.S243S|MAPK8IP3_uc002cml.3_Silent_p.S243S|MAPK8IP3_uc021tah.1_Silent_p.S243S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	243					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTGCAGTCCAGCTCCAGCT	0.662000														18			24		0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675475	102675475	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102675475A>G	uc010txu.2	+	3	1133	c.1061A>G	c.(1060-1062)gAc>gGc	p.D354G	WDR20_uc001ylf.3_Missense_Mutation_p.D335G|WDR20_uc001ykz.3_Missense_Mutation_p.D323G|WDR20_uc001yky.2_Missense_Mutation_p.D66G|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Missense_Mutation_p.D262G|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Missense_Mutation_p.D262G|WDR20_uc001yld.3_Missense_Mutation_p.D323G	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	323										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAAGAAGGTGACCCTATGGAG	0.498000														67			3		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162849796	162849796	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:162849796A>C	uc002ubz.3	-	25	2859	c.2298T>G	c.(2296-2298)ccT>ccG	p.P766P	DPP4_uc010fpb.3_Silent_p.P442P	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	766					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TGAGGTGCTAAGGTAAAGAGA	0.343000														68			7		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21040040	21040040	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21040040C>T	uc001bdr.4	-	2	505	c.387G>A	c.(385-387)gaG>gaA	p.E129E	KIF17_uc001bds.4_Silent_p.E129E	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	129	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACTTAGTGTTCTCTGCACACT	0.592000														16			10		0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726461	131726461	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131726461C>T	uc003kwx.4	+	7	1468	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F	SLC22A5_uc003kww.4_Missense_Mutation_p.L378F|SLC22A5_uc010jdr.1_Intron	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	378					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GAACTGCTTCCTTTCAGCGAT	0.512000														21			25		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548070	19548070	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19548070C>T	uc002dgl.4	+	3	1326	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	CCP110_uc002dgk.4_Missense_Mutation_p.S360L	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	360	Interaction with CEP76.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTTACAGGTTCATATGCCAAA	0.378000														15			10		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562590	140562590	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140562590C>T	uc003liv.3	+	0	1611	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	152	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTGAGTTCCCTCTGAATC	0.393000														16			7		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90020775	90020775	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:90020775A>G	uc002fpn.2	+	2	431	c.298A>G	c.(298-300)Act>Gct	p.T100A	DEF8_uc021tmu.1_Missense_Mutation_p.T39A|DEF8_uc002fpl.3_Missense_Mutation_p.T39A|DEF8_uc002fpm.3_Missense_Mutation_p.T39A|DEF8_uc002fpo.2_Missense_Mutation_p.T39A|DEF8_uc002fpp.2_Missense_Mutation_p.T39A|DEF8_uc021tmv.1_Missense_Mutation_p.T39A|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.T39A	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	100					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCCGGACGTCACTCCTGAAGG	0.657000														25			14		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25232332	25232332	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:25232332G>A	uc001rgh.3	+	7	1166	c.72_splice	c.e7-1	p.R24_splice	LRMP_uc001rgg.2_Splice_Site|LRMP_uc010sja.2_Splice_Site_p.R24_splice|LRMP_uc010sjc.2_Splice_Site_p.R24_splice|LRMP_uc001rgi.3_Splice_Site|LRMP_uc010sjb.2_Splice_Site|LRMP_uc010sjd.2_Splice_Site	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	80					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTTTTGGCAGGGAATATTCCT	0.348000														38			47		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131499	142131499	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142131499G>A	uc010lnz.1	-	1	300	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGAACTGGTGACCTGAGAAT	0.542000														71			53		0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580456	77580456	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77580456T>C	uc001xtd.3	+	3	1174	c.995T>C	c.(994-996)aTc>aCc	p.I332T	KIAA1737_uc001xtc.1_Missense_Mutation_p.I234T	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	332										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TTGCTGGAGATCACTTTGAAA	0.468000														44			14		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687933	30687933	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30687933T>C	uc010csz.3	+	5	854	c.507T>C	c.(505-507)ggT>ggC	p.G169G	ZNF207_uc002hhj.4_Silent_p.G166G|ZNF207_uc002hhh.4_Silent_p.G166G|ZNF207_uc002hhi.4_Silent_p.G166G|ZNF207_uc002hhk.1_Silent_p.G166G|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAATGCCAGGTGTTCCTCCTC	0.393000														25			4		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119452304	119452304	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:119452304T>G	uc003ede.4	+	9	1372	c.1295T>G	c.(1294-1296)tTt>tGt	p.F432C	C3orf15_uc010hqy.2_Missense_Mutation_p.F432C|C3orf15_uc010hqz.3_Missense_Mutation_p.F370C|C3orf15_uc011bjd.2_Missense_Mutation_p.F306C|C3orf15_uc011bje.2_Missense_Mutation_p.F412C|C3orf15_uc010hra.2_Missense_Mutation_p.F193C	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	0						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AAAGCTGGTTTTCTGAAGAGG	0.418000														153			6		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345528	33345528	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33345528G>A	uc002xav.3	-	7	3594	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	NCOA6_uc002xaw.3_Silent_p.N341N|NCOA6_uc021wcd.1_Silent_p.N341N|NCOA6_uc021wce.1_Silent_p.N341N|NCOA6_uc021wcf.1_Silent_p.N341N|NCOA6_uc010gew.1_Silent_p.N298N	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	341	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCCACCCTTGGTTTGCAGTCA	0.612000														43			37		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24728443	24728443	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24728443C>T	uc001wod.3	-	6	1121	c.997G>A	c.(997-999)Gat>Aat	p.D333N	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	333					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCATTGTCATCCAGGGAGTTC	0.617000														14			3		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6873690	6873690	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:6873690G>A	uc002knc.3	+	8	4183	c.972G>A	c.(970-972)ggG>ggA	p.G324G	ARHGAP28_uc002kne.3_Silent_p.G217G|ARHGAP28_uc010wzi.2_Silent_p.G199G|ARHGAP28_uc002knf.3_Silent_p.G208G	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	199					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAGACAATGGGATTTTTGGAG	0.403000														23			10		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867518	107867518	+	Silent	SNP	G	A	A	rs142977353	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:107867518G>A	uc001dvh.4	+	2	1579	c.861G>A	c.(859-861)gcG>gcA	p.A287A	NTNG1_uc001dvc.4_Silent_p.A287A|NTNG1_uc010out.2_Silent_p.A287A|NTNG1_uc001dvf.4_Silent_p.A287A|NTNG1_uc001dvd.1_Silent_p.A287A	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	287	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A287A(4)|p.A287P(1)|p.Y286*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACTTTTACGCGATCTCAGACA	0.458000														40			54		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:171178045C>T	uc001ghk.1	+	8	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	FMO2_uc010pmd.1_Missense_Mutation_p.P237S	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	457					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000														180			122		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241895	65241895	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65241895T>G	uc001xht.3	-	21	4841	c.4790A>C	c.(4789-4791)gAg>gCg	p.E1597A	SPTB_uc001xhr.3_Missense_Mutation_p.E1597A|SPTB_uc001xhs.3_Missense_Mutation_p.E1597A|SPTB_uc001xhu.3_Missense_Mutation_p.E1597A|SPTB_uc010aqi.3_Missense_Mutation_p.E258A	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1597					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)		AATCCAGGCCTCAGCCTCGTC	0.647000														141			9		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390607	197390607	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197390607A>T	uc001gtz.3	+	5	1858	c.1649A>T	c.(1648-1650)aAt>aTt	p.N550I	CRB1_uc010poz.2_Missense_Mutation_p.N481I|CRB1_uc009wza.3_Missense_Mutation_p.N438I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.N550I|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.N31I|CRB1_uc001gub.1_Missense_Mutation_p.N199I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	550	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTCAATAATCAGTCAAAG	0.453000														63			45		0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51298303	51298303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51298303C>T	uc002pta.1	+	10	1169	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	390						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGCAGCTCCAGTGGTGCCC	0.687000														11			3		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219000	42219000	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42219000T>C	uc002orl.3	+	2	656	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R	CEACAM5_uc010ehz.1_Missense_Mutation_p.W179R|CEACAM5_uc002orj.1_Missense_Mutation_p.W179R	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	179	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTACCTGTGGTGGGTAAACAA	0.542000														156			29		0	0	1	0	0
C12orf59	120939	broad.mit.edu	37	12	10332200	10332200	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10332200G>A	uc001qxr.3	+	0	644	c.27G>A	c.(25-27)gcG>gcA	p.A9A	C12orf59_uc001qxq.3_Missense_Mutation_p.R4Q			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	9						integral to membrane				large_intestine(4)|lung(4)|ovary(1)	9						ATGTCGTGGCGGCCTCAGCCC	0.488000														115			90		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573154	44573154	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44573154G>A	uc003tlb.3	-	7	2341	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	NPC1L1_uc011kbw.2_Missense_Mutation_p.A762V|NPC1L1_uc003tlc.3_Missense_Mutation_p.A762V|NPC1L1_uc003tld.3_Missense_Mutation_p.P724S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	762	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGGGTCAGGGCCCCTGTGAG	0.612000														42			38		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147029974	147029974	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147029974T>C	uc010jgo.1	-	2	912	c.764A>G	c.(763-765)gAg>gGg	p.E255G	JAKMIP2_uc003loq.1_Missense_Mutation_p.E255G|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E213G|JAKMIP2_uc003lor.1_Missense_Mutation_p.E255G|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	255						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTTGCACTCAGCCTCCTT	0.488000														37			7		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111115	7111115	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7111115G>A	uc001mfc.2	+	0	951	c.764G>A	c.(763-765)aGa>aAa	p.R255K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	255	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCCCTTGAGAGGCTACAGC	0.642000														19			27		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43902761	43902761	+	Missense_Mutation	SNP	G	A	A	rs150576105		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43902761G>A	uc002zbg.3	-	5	664	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	187					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCTGTTAAACGATATTCACCA	0.418000														18			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059418	9059418	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9059418G>A	uc002mkp.3	-	2	28232	c.28028C>T	c.(28027-28029)tCa>tTa	p.S9343L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9345	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGTGTCTGATGACATTGT	0.512000														51			56		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72256015	72256015	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:72256015C>T	uc021rkj.1	-	1	1305	c.882G>A	c.(880-882)agG>agA	p.R294R	DACH1_uc021rkk.1_Silent_p.R294R|DACH1_uc021rkl.1_Silent_p.R294R	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	292	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CACTTTGAGTCCTCTTAGGAG	0.418000														19			21		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242222	5242222	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:5242222G>A	uc003jdl.3	+	16	2718	c.2580G>A	c.(2578-2580)ttG>ttA	p.L860L	ADAMTS16_uc003jdk.1_Silent_p.L860L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	860	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R859C(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCTCGCTTGGGGACCGAGA	0.552000														54			5		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100217	9100217	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9100217G>A	uc001apo.3	-	5	895	c.603C>T	c.(601-603)gtC>gtT	p.V201V	SLC2A5_uc010nzy.2_Silent_p.V142V|SLC2A5_uc010nzz.2_Silent_p.V86V|SLC2A5_uc010oaa.2_Silent_p.V157V	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	201					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGCGGGGACCCCGGTCA	0.682000														4			5		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505488	11505488	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:11505488C>T	uc001iks.1	-	13	1533	c.1490G>A	c.(1489-1491)aGg>aAg	p.R497K	USP6NL_uc001ikt.3_Missense_Mutation_p.R480K	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	480						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAACTCCTTCCTGATATTTGA	0.488000														163			151		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057222	120057222	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120057222C>T	uc001ehv.1	+	3	1221	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	359					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGGGTTGGTTCCCTTGTGGAC	0.493000														25			18		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167643	18167643	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18167643C>T	uc010vxq.2	+	3	989	c.963C>T	c.(961-963)gtC>gtT	p.V321V	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Silent_p.V310V	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	310						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					TCCCTGGGGTCGATGCTGACG	0.677000														77			85		0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122689170	122689170	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122689170T>G	uc001ubx.3	+	1	223	c.5T>G	c.(4-6)cTt>cGt	p.L2R	B3GNT4_uc001uby.3_Intron	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	2					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCGTTCATGCTTCCTCCCCAG	0.657000														11			6		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78447020	78447020	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78447020C>T	uc002jyp.1	-	2	1035	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	293	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ATGAGGATCTCCATGGGGTTG	0.657000														34			61		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664095	237664095	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237664095C>T	uc001hyl.1	+	20	2408	c.2288C>T	c.(2287-2289)gCc>gTc	p.A763V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	763	B30.2/SPRY 1.				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	p.P762Q(1)		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)			GATCTGAGTGCCCCAAGCATC	0.428000														118			97		0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130550563	130550563	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130550563T>C	uc004bse.2	+	4	626	c.503T>C	c.(502-504)tTt>tCt	p.F168S		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	168	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CTGGCAGACTTTGGGCTGGCC	0.597000														24			3		0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114530088	114530088	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:114530088C>T	uc001vug.3	-	3	1513	c.461G>A	c.(460-462)gGa>gAa	p.G154E	GAS6_uc001vud.3_Missense_Mutation_p.G453E|GAS6_uc001vuf.3_Missense_Mutation_p.G180E	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	496	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGTCTTCTCCGTTCAGCCA	0.577000														33			35		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46492037	46492037	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46492037C>T	uc003cpq.3	-	6	1071	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	LTF_uc003fzr.3_Missense_Mutation_p.R233Q|LTF_uc010hjh.3_Missense_Mutation_p.R277Q|LTF_uc003cpr.3_Missense_Mutation_p.R264Q	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	277	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATTCACACTTCGTGCCACAAC	0.567000														19			13		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634898	6634898	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6634898G>A	uc001ant.3	+	2	802	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.G158R	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	236					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACTGGTCAGGGGATCTGCAT	0.622000														81			29		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	861901	861901	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:861901G>A	uc002wei.3	-	4	967	c.864C>T	c.(862-864)ttC>ttT	p.F288F	ANGPT4_uc010zpn.2_Silent_p.F282F	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	288	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CACAGTCCTGGAACACCTGCT	0.572000														29			17		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869854	117869854	+	Missense_Mutation	SNP	G	A	A	rs117423374	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117869854G>A	uc001prv.3	+	6	1312	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IL10RA_uc010rxl.2_Missense_Mutation_p.R392Q|IL10RA_uc010rxm.2_Missense_Mutation_p.R392Q|IL10RA_uc010rxn.2_Missense_Mutation_p.R263Q|IL10RA_uc001prw.3_Missense_Mutation_p.R263Q	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	412						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCTGAGGGCCGGGCTGGGGAC	0.647000														2			30		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52266273	52266273	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52266273T>G	uc001ctc.4	-	22	2922	c.2600A>C	c.(2599-2601)aAg>aCg	p.K867T	NRD1_uc009vzb.3_Missense_Mutation_p.K562T|NRD1_uc001cte.3_Missense_Mutation_p.K735T|NRD1_uc001ctd.4_Missense_Mutation_p.K799T|NRD1_uc001ctf.2_Missense_Mutation_p.K799T|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	798					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GTAGGTCTTCTTCAACTGCTC	0.393000														153			13		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217128	21217128	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21217128G>A	uc003zor.1	-	0	183	c.177C>T	c.(175-177)ttC>ttT	p.F59F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGGGGAATCCGAAATCATATC	0.502000														76			41		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767487	105767487	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:105767487G>A	uc004bbs.2	+	4	644	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	192	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				taacaaaaaagataaaaagga	0.358000														28			4		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117839	46117839	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46117839C>T	uc002zfw.1	+	0	753	c.723C>T	c.(721-723)tcC>tcT	p.S241S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	241						keratin filament				large_intestine(1)|lung(8)	9						CCACATGTTCCCGCCTGGCCT	0.706000														57			58		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482133	135482133	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:135482133A>G	uc004ezu.1	+	20	8724	c.8433A>G	c.(8431-8433)acA>acG	p.T2811T	GPR112_uc010nsb.1_Silent_p.T2606T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2811					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTGTATCACAGCTGCAGTGG	0.413000														69			8		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116631589	116631589	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116631589T>G	uc001ppn.3	-	4	1150	c.1116A>C	c.(1114-1116)tcA>tcC	p.S372S	BUD13_uc001ppo.3_Silent_p.S238S|BUD13_uc009yzc.3_Silent_p.S372S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	372										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGACAGATCTGAATCAGAAT	0.493000														46			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38867668	38867668	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38867668G>A	uc021yzh.1	+	61	9289	c.9180G>A	c.(9178-9180)caG>caA	p.Q3060Q	DNAH8_uc003ooe.2_Silent_p.Q2843Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATATTCCAGATAACATTAA	0.348000														13			6		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497108	1497108	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:1497108G>A	uc003wpl.3	+	1	346	c.249G>A	c.(247-249)cgG>cgA	p.R83R	DLGAP2_uc003wpm.3_Silent_p.R83R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	162					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)		CCTTCCCGCGGATGCACTACA	0.697000														14			22		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512916	157512916	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157512916G>A	uc009wsm.3	-	5	1014	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H286Y|FCRL5_uc010phv.1_Missense_Mutation_p.H286Y|FCRL5_uc010phw.1_Missense_Mutation_p.H201Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H286Y|FCRL5_uc010phx.2_Missense_Mutation_p.H37Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	286						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGACAGGATGAGATGCAGGG	0.463000														22			8		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950539	235950540	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:235950539_235950540CC>TT	uc002vvp.3	+	3	1519_1520	c.1126_1127CC>TT	c.(1126-1128)cct>TTt	p.P376F	SH3BP4_uc010fym.3_Missense_Mutation_p.P376F|SH3BP4_uc002vvq.3_Missense_Mutation_p.P376F	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	376					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCATCAGCCCTGTGCTGGAG	0.554000														28			15		0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34507087	34507087	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34507087C>T	uc003ojq.2	-	4	1203	c.769G>A	c.(769-771)Gag>Aag	p.E257K	SPDEF_uc011dsq.2_Missense_Mutation_p.E241K	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	257					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						AGTAGCAACTCCTTGAGGAAC	0.632000														105			81		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282546	28282546	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:28282546C>T	uc001bpg.3	+	6	1149	c.958C>T	c.(958-960)Cca>Tca	p.P320S	SMPDL3B_uc001bpf.3_Missense_Mutation_p.P320S|SMPDL3B_uc010ofq.2_Missense_Mutation_p.P114S|SMPDL3B_uc010ofr.2_Missense_Mutation_p.P272S	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	320					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.N319S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGCCAACAATCCAGCCATCCG	0.567000														56			15		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48229100	48229100	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48229100C>T	uc002phj.4	+	3	784	c.534C>T	c.(532-534)ttC>ttT	p.F178F	EHD2_uc010xyu.2_Silent_p.F42F	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	178					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGCGCTGGTTCGCGGAGCGCG	0.637000														30			15		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989330	53989330	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:53989330G>A	uc011dxa.2	+	2	345	c.312G>A	c.(310-312)gcG>gcA	p.A104A	MLIP_uc003pcf.2_Silent_p.A93A|MLIP_uc003pcg.4_Silent_p.A93A|MLIP_uc003pch.4_Silent_p.A31A|MLIP_uc011dwz.1_Silent_p.A52A	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	93						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GAGACCAAGCGAAATTGACTT	0.403000														40			30		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624671	53624671	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:53624671C>T	uc001vhl.3	+	4	1394	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	433	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCTTCTAACGCCTTCATGGTA	0.428000														38			23		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845321	101845321	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:101845321C>T	uc003uys.4	+	17	2904	c.2777C>T	c.(2776-2778)cCg>cTg	p.P926L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P915L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	915					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P915L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCATCCTCCCCGATCGTGCCC	0.657000														60			57		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9656049	9656049	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9656049A>G	uc021ofy.1	+	1	272	c.215A>G	c.(214-216)cAg>cGg	p.Q72R	TMEM201_uc001apy.3_Missense_Mutation_p.Q72R|TMEM201_uc021ofz.1_5'Flank	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	72						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CACTGCGAGCAGTACAACGGC	0.612000														49			5		0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175945431	175945431	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:175945431T>C	uc002ujl.3	-	12	1510	c.1248A>G	c.(1246-1248)aaA>aaG	p.K416K	ATF2_uc002ujv.3_Silent_p.K163K|ATF2_uc002ujm.3_Silent_p.K358K|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Silent_p.K55K|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Silent_p.K416K|ATF2_uc010fqu.3_Silent_p.K398K|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Silent_p.K358K|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Silent_p.K367K|ATF2_uc002ujw.1_Silent_p.K358K|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	416					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAGGGCAATCTTTATGAGCCA	0.443000														105			4		0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73115659	73115659	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:73115659A>C	uc002sik.2	+	1	571	c.521A>C	c.(520-522)aAg>aCg	p.K174T		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	174					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGTGCAGGAAAGGCTGCTCGT	0.587000											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			11		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084811	248084811	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248084811C>T	uc010pzc.2	+	0	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCTGAGCTTCCCATATTGCG	0.577000														36			20		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972765	29972765	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:29972765G>A	uc004dby.2	+	9	1836	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	443	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGCATTATGGATATAAGTTG	0.383000														3			26		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123078867	123078867	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123078867A>G	uc001ucv.3	+	42	4453	c.4290A>G	c.(4288-4290)aaA>aaG	p.K1430K	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1430					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCACCAAGAAAGACCTCATTA	0.318000														28			8		0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87568537	87568537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87568537C>T	uc003ydv.2	+	15	1624	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	CPNE3_uc003ydw.1_Nonsense_Mutation_p.Q204*	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	488	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGATATTGTCCAGTTTGTGCC	0.512000														27			23		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688825	26688825	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26688825G>A	uc002rhk.3	-	36	4747	c.4620C>T	c.(4618-4620)gtC>gtT	p.V1540V	OTOF_uc010yla.2_Silent_p.V270V|OTOF_uc002rhh.3_Silent_p.V773V|OTOF_uc002rhi.3_Silent_p.V850V|OTOF_uc002rhj.3_Silent_p.V773V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1540	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCCCAAAGACAGGGTTGA	0.552000														45			16		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8158980	8158980	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8158980T>G	uc002gkr.3	+	4	686	c.545T>G	c.(544-546)cTt>cGt	p.L182R	PFAS_uc010vuv.2_Intron	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	182					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAGGGCCGGCTTGCGCTGGAG	0.582000														33			9		0	0	1	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867124	20867124	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:20867124G>A	uc011jyj.1	+	0		c.208G>A								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		TGGGTGACATGGGGATGGCTA	0.488000														31			25		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152472610	152472610	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152472610A>C	uc021vrb.1	-	70	10495	c.10466T>G	c.(10465-10467)cTt>cGt	p.L3489R	NEB_uc002txu.3_Missense_Mutation_p.L3732R|NEB_uc021vrc.1_Missense_Mutation_p.L3732R|NEB_uc010fnx.3_Missense_Mutation_p.L3477R|NEB_uc021vrd.1_Missense_Mutation_p.L3489R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3489					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.K3488T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCAAAGCAAGTTTATAGAG	0.373000														16			5		0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50593567	50593567	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50593567T>C	uc001zyb.3	-	5	896	c.472_splice	c.e5-1	p.I158_splice	GABPB1_uc001zya.3_Splice_Site_p.I158_splice|GABPB1_uc010ufg.2_Splice_Site_p.I82_splice|GABPB1_uc001zyd.3_Splice_Site_p.I158_splice|GABPB1_uc001zye.3_Splice_Site_p.I158_splice|GABPB1_uc001zyf.3_Splice_Site_p.I158_splice|GABPB1_uc001zyc.3_Splice_Site_p.I158_splice	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	158					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CATAGCAATCTAGGGAAAAAA	0.383000														29			29		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391951	23391951	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:23391951C>T	uc002dln.3	+	12	1928	c.1752C>T	c.(1750-1752)gcC>gcT	p.A584A		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	584					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGGTGGAGGCCCACACCAACT	0.706000														23			49		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347140	71347140	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71347140T>C	uc011cat.2	+	3	967	c.679T>C	c.(679-681)Tct>Cct	p.S227P	MUC7_uc011cau.2_Missense_Mutation_p.S227P|MUC7_uc003hfj.3_Missense_Mutation_p.S227P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	227	Thr-rich.					extracellular region	protein binding	p.P226L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCATCTTCCTCAGC	0.577000														136			20		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949051	89949051	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89949051G>A	uc003kju.3	+	19	3756	c.3660G>A	c.(3658-3660)caG>caA	p.Q1220Q	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1220					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGGGGCCAGCTAGCAGAAA	0.403000														7			3		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833400	37833400	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37833400G>A	uc021wja.1	-	0	594	c.594C>T	c.(592-594)ccC>ccT	p.P198P	CLDN14_uc002yvn.1_Silent_p.P198P|CLDN14_uc002yvo.1_Silent_p.P198P|CLDN14_uc002yvk.1_Silent_p.P198P|CLDN14_uc002yvl.1_Silent_p.P198P|CLDN14_uc002yvm.1_Silent_p.P198P	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	198					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGGTGGCCCTGGGCGGGGCCT	0.657000														54			33		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121240856	121240856	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121240856G>A	uc003eee.4	-	7	1378	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	417	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCTGCATGATGAAATGCT	0.338000								DNA polymerases (catalytic subunits)						0			74		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073623	9073623	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9073623G>A	uc002mkp.3	-	2	14027	c.13823C>T	c.(13822-13824)aCc>aTc	p.T4608I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4610	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S4607I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCTGGAGGGTGCTGTTCTC	0.488000														23			30		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994235	144994235	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144994235T>C	uc003zaf.1	-	31	10335	c.10165A>G	c.(10165-10167)Acg>Gcg	p.T3389A	PLEC_uc003zab.1_Missense_Mutation_p.T3252A|PLEC_uc003zac.1_Missense_Mutation_p.T3256A|PLEC_uc003zad.2_Missense_Mutation_p.T3252A|PLEC_uc003zae.1_Missense_Mutation_p.T3220A|PLEC_uc003zag.1_Missense_Mutation_p.T3230A|PLEC_uc003zah.2_Missense_Mutation_p.T3238A|PLEC_uc003zaj.2_Missense_Mutation_p.T3279A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3389	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCACACCGTCACCGTCCTG	0.627000														138			9		0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132334421	132334421	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:132334421C>T	uc001ujc.1	+	8	1378	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	MMP17_uc001ujd.1_Missense_Mutation_p.P343S	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	427	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTCAGCCTCCCGCCTGGCGG	0.587000														45			32		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257227	105257227	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105257227C>T	uc003yls.3	+	23	3713	c.3472C>T	c.(3472-3474)Cga>Tga	p.R1158*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R1140*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R1147*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R954*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R979*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1202					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGATGACTCGACAGGCAAG	0.498000										HNSCC(12;0.0054)				66			63		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101758	81101758	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81101758G>A	uc001szf.2	+	0	351	c.260G>A	c.(259-261)aGa>aAa	p.R87K		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	87					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACCTGCAAGAGAAAATCTGCC	0.622000														3			30		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012452	135012452	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:135012452G>A	uc001llz.1	+	13	2441	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N	KNDC1_uc001lma.1_Missense_Mutation_p.D749N|KNDC1_uc001lmb.1_Missense_Mutation_p.D226N	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCAGGCCCGACGCCCTGGg	0.756000														0			5		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85456745	85456745	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85456745G>A	uc010rth.2	-	2	713	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SYTL2_uc010rtg.2_Silent_p.F108F|SYTL2_uc010rti.2_Silent_p.F108F|SYTL2_uc010rtj.2_Silent_p.F60F|SYTL2_uc001pbf.4_Silent_p.F108F	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	108					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.L107H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGGAGGAAGGAAAGCATCTT	0.498000														4			49		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14928201	14928201	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:14928201G>A	uc004fst.1	+	31	5697	c.4752G>A	c.(4750-4752)agG>agA	p.R1584R	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	1584					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTCTATCAGGAACAGTATTC	0.428000														0			22		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379197	32379197	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:32379197T>G	uc002wzy.3	+	14	2459	c.2439T>G	c.(2437-2439)acT>acG	p.T813T	ZNF341_uc002wzx.3_Silent_p.T806T|ZNF341_uc010geq.3_Silent_p.T723T|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Silent_p.T240T	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGCGGAAACTGAGCTGGTGG	0.711000														66			20		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018141	103018141	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103018141T>G	uc003vbz.3	-	17	2153	c.1891A>C	c.(1891-1893)Aga>Cga	p.R631R	SLC26A5_uc003vbt.2_Silent_p.R631R|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.R599R	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	631	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGCATAAATCTTTGCATTTCC	0.423000														79			8		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680499	30680499	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30680499T>G	uc003nrg.4	-	4	1660	c.1220A>C	c.(1219-1221)gAg>gCg	p.E407A	MDC1_uc003nrf.4_Missense_Mutation_p.E61A|MDC1_uc011dmp.1_Missense_Mutation_p.E279A|MDC1_uc003nrh.1_Missense_Mutation_p.E279A|MDC1_uc003nri.2_Missense_Mutation_p.E407A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	407	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACTTCTTCCTCGTCATCTGT	0.522000								Other conserved DNA damage response genes						72			4		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186313134	186313134	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186313134T>G	uc001grv.3	-	25	3803	c.3506A>C	c.(3505-3507)aAg>aCg	p.K1169T	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1169					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCAACGACCTTGTCACTTAA	0.393000			T	NTRK1	papillary thyroid									22			9		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028648	13028648	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13028648C>T	uc010sho.2	+	0	238	c.216C>T	c.(214-216)ccC>ccT	p.P72P						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GCCCCTACCCCCTCCAGGCCC	0.582000														18			12		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62350030	62350030	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62350030G>A	uc001dab.3	+	21	3195	c.3081G>A	c.(3079-3081)aaG>aaA	p.K1027K	INADL_uc009waf.1_Silent_p.K1027K|INADL_uc001daa.2_Silent_p.K1027K|INADL_uc001dad.3_Silent_p.K724K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1027					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTATTTCCAAGGCCTCAGCAT	0.393000														90			25		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169024	32169024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32169024C>T	uc003obb.3	-	21	4148	c.4009G>A	c.(4009-4011)Gac>Aac	p.D1337N	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1337					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1337N(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TACACCATGTCCCTGCCATCA	0.627000														33			40		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65348784	65348784	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65348784A>C	uc001oeo.4	+	7	1071	c.806A>C	c.(805-807)gAa>gCa	p.E269A		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	269										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGAGCTAATGAAGCGGGGGGC	0.647000														28			5		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4936029G>A	uc001lzr.1	-	0	865	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000														32			20		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503584	105503584	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105503584T>C	uc003yma.3	-	6	2024	c.1897A>G	c.(1897-1899)Agt>Ggt	p.S633G	LRP12_uc003ymb.3_Missense_Mutation_p.S614G|LRP12_uc003ylz.3_Missense_Mutation_p.S39G	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	633					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.Q632Q(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACTGGTACTCTGACTAGGG	0.423000														62			4		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	A	A	rs121913387		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21971186G>A	uc003zpk.3	-	1	478	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R58*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P72L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	58			R -> Q (in dbSNP:rs36204273).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R58*(163)|p.?(45)|p.M53_R58del(6)|p.A57V(5)|p.A57P(5)|p.R58fs*59(4)|p.R58fs*88(3)|p.P113L(3)|p.A57_R58>V*(2)|p.R58R(2)|p.M54fs*61(2)|p.A57fs*85(2)|p.A57T(2)|p.R58fs*61(2)|p.R58fs*62(2)|p.A57fs*62(1)|p.A57fs*63(1)|p.R58fs*89(1)|p.0(1)|p.R58Q(1)|p.P113fs*>61(1)|p.G55fs*86(1)|p.V28_V51del(1)|p.A57A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				13			9		0	0	1	0	0
RNF7	9616	broad.mit.edu	37	3	141462360	141462360	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:141462360T>G	uc003eud.3	+	1	318	c.185T>G	c.(184-186)cTt>cGt	p.L62R	RNF7_uc021xet.1_Non-coding_Transcript|RNF7_uc003eue.3_Non-coding_Transcript|RNF7_uc003euc.3_Missense_Mutation_p.L60V|RNF7_uc021xeu.1_Intron	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN	Homo sapiens ring finger protein 7 (RNF7), transcript variant 1, mRNA.	62					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	NEDD8 ligase activity|copper ion binding|protein binding|zinc ion binding	p.L62V(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GATGCCTGTCTTAGATGTCAA	0.358000														100			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416817	179416817	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179416817A>G	uc021vsy.1	-	283	83331	c.83106T>C	c.(83104-83106)acT>acC	p.T27702T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T21397T|TTN_uc021vta.1_Silent_p.T21330T|TTN_uc021vtb.1_Silent_p.T21205T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28629	Fibronectin type-III 102.						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)			TCTTCCAGTTAGTTTGTGAAG	0.423000														52			39		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11389887	11389887	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:11389887T>G	uc002rbd.1	-	3	811	c.362A>C	c.(361-363)aAg>aCg	p.K121T		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	121	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTAAGAAGCTTCATAGCATA	0.358000														72			7		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7611638	7611638	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7611638C>T	uc021pmv.1	-	11	2248	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	ITIH5_uc021pmu.1_Silent_p.R500R	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	714					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TACCAGAGTCCCTGTGATCAG	0.552000														13			13		0	0	1	0	0
MMP23A	8511	broad.mit.edu	37	1	1633196	1633196	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1633196C>T	uc001ahi.1	+	5	855	c.491C>T	c.(490-492)tCc>tTc	p.S164F	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|MMP23A_uc009vko.1_3'UTR					Homo sapiens matrix metallopeptidase 23A (pseudogene) (MMP23A), non-coding RNA.																		ACCACCTACTCCTGGCGAGTC	0.662000														44			18		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087627	49087627	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49087627T>C	uc001rsd.4	-	8	1693	c.1370A>G	c.(1369-1371)aAa>aGa	p.K457R	CCNT1_uc009zkz.2_Missense_Mutation_p.K172R|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	457					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						GAGAGCTGTTTTGTCAGCCTT	0.443000														135			9		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7898973	7898973	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7898973G>A	uc001qtg.1	-	1	252	c.78C>T	c.(76-78)gtC>gtT	p.V26V	CLEC4C_uc001qth.1_Silent_p.V26V|CLEC4C_uc001qti.1_Intron	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	26					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATGGATACGACTGCCATGG	0.483000														13			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482446	76482447	+	Missense_Mutation	DNP	CC	TT	TT	rs142911375	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76482446_76482447CC>TT	uc010dhp.2	-	44	7085_7086	c.6960_6961GG>AA	c.(6958-6963)acggtg>acAAtg	p.V2321M		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.T2315T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTTTGGATCACCGTGATCTCCG	0.569000														47			15		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661573	36661573	+	Missense_Mutation	SNP	G	A	A	rs146925617	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36661573G>A	uc003ape.3	+	6	1013	c.739G>A	c.(739-741)Gga>Aga	p.G247R	APOL1_uc011amn.1_Missense_Mutation_p.G108R|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.G108R|APOL1_uc003apf.3_Missense_Mutation_p.G231R|APOL1_uc011amp.2_Missense_Mutation_p.G231R|APOL1_uc011amq.2_Missense_Mutation_p.G213R|APOL1_uc010gwx.3_Missense_Mutation_p.G108R	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	231					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CATGGACTACGGAAAGAAGTG	0.517000														39			35		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214755	161214755	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:161214755G>A	uc011bpb.2	+	0	160	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	54						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						ACCTCCAGAAGAAGAAGAAAC	0.473000														2			96		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176636	41176636	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41176636G>A	uc003jmk.2	-	7	1319	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	C6_uc003jml.1_Missense_Mutation_p.S370F|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	370	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.S370F(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCCTCCCAGGGAGCCAGAGGT	0.423000														84			11		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547459	19547459	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19547459T>A	uc002dgl.4	+	3	715	c.468T>A	c.(466-468)acT>acA	p.T156T	CCP110_uc002dgk.4_Silent_p.T156T	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	156	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATGTAAAACTGATGGAATAG	0.373000														41			16		0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704485	143704485	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:143704485T>G	uc003evo.3	+	1	1293	c.758T>G	c.(757-759)tTt>tGt	p.F253C	C3orf58_uc011bnl.2_Missense_Mutation_p.F44C	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	253						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGAGTTACTTTAATGCGCCA	0.418000														172			46		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178412129	178412129	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:178412129C>T	uc001glq.3	+	7	2011	c.1247C>T	c.(1246-1248)cCa>cTa	p.P416L	RASAL2_uc001glr.3_Missense_Mutation_p.P268L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	268	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGTGGTATCCAGTGAGTACA	0.418000														54			16		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53853695	53853695	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53853695C>T	uc003dgz.3	-	6	1568	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	376					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GGCAGTGGCTCCCTCCCCTGA	0.627000														4			8		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980032	3980032	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3980032G>A	uc002lze.3	-	9	1462	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	460						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTCGATGGGCTCCACGTA	0.622000														16			21		0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212226	28212226	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:28212226G>A	uc002ymf.3	-	5	2275	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	607	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		AAGGTTACAGGATCTGTAGCG	0.483000														69			53		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593680	101593680	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:101593680C>T	uc003knm.3	-	6	1527	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	414					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GATGTCAATCCGAATTGATTT	0.294000														17			9		0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416409	57416409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57416409C>T	uc002eli.3	+	2	726	c.659C>T	c.(658-660)tCc>tTc	p.S220F		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	220	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGGCCCCGTCCACCCAGGAC	0.682000														6			57		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890223	139890223	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139890223T>A	uc003yvd.3	-	2	875	c.428A>T	c.(427-429)aAg>aTg	p.K143M		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	143	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCACCTGCTTGTAGGCGCG	0.726000										HNSCC(7;0.00092)				8			3		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78937987	78937987	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:78937987C>T	uc004akc.2	+	30	4579	c.4041C>T	c.(4039-4041)ttC>ttT	p.F1347F		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	761					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGAGTTCTTCCTGCACGATG	0.567000														13			5		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63272622	63272622	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:63272622G>T	uc002sby.3	+	24	4165	c.3683G>T	c.(3682-3684)tGt>tTt	p.C1228F	EHBP1_uc010fcp.3_Missense_Mutation_p.C1157F|EHBP1_uc002sbz.3_Missense_Mutation_p.C1157F|EHBP1_uc002scb.3_Missense_Mutation_p.C1193F|LOC100132215_uc002scc.3_Intron|LOC100132215_uc021vil.1_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	1228						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAGGAGAAATGTGTTCTTCAG	0.423000														13			10		3.07112e-06	3.07851e-06	1	1	0
TMX2	51075	broad.mit.edu	37	11	57505101	57505101	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57505101T>A	uc001nlc.2	+	1	307	c.211T>A	c.(211-213)Ttt>Att	p.F71I	CTNND1_uc001nlf.2_5'UTR|TMX2_uc001nld.2_5'UTR|TMX2_uc001nle.2_Missense_Mutation_p.F71I|TMX2_uc021qji.1_Non-coding_Transcript	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	71					cell redox homeostasis	integral to membrane		p.F71L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GATCCTGATGTTTCTCAGTGC	0.418000														27			10		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47709991	47709991	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:47709991A>T	uc002rvy.1	+	15	2776	c.2708A>T	c.(2707-2709)aAc>aTc	p.N903I	MSH2_uc010yoh.1_Missense_Mutation_p.N837I|MSH2_uc002rvz.3_Intron|MSH2_uc010fbg.2_Missense_Mutation_p.N713I	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	903					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGAAGAAAACATCACAATA	0.323000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					12			3		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61537257	61537257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61537257G>A	uc002ydr.2	-	5	1882	c.1570C>T	c.(1570-1572)Ccg>Tcg	p.P524S	DIDO1_uc002yds.2_Missense_Mutation_p.P524S|DIDO1_uc002ydt.2_Missense_Mutation_p.P524S|DIDO1_uc002ydu.2_Missense_Mutation_p.P524S|DIDO1_uc002ydv.2_Missense_Mutation_p.P524S|DIDO1_uc002ydw.2_Missense_Mutation_p.P524S|DIDO1_uc002ydx.2_Missense_Mutation_p.P524S|DIDO1_uc011aao.1_Missense_Mutation_p.P524S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	524					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACAGTGACGGCGAGGGAGCA	0.562000														93			90		0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41822725	41822725	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41822725C>T	uc002oqg.3	+	1	605	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_052848	NP_443080	Q96F63	CCD97_HUMAN	Homo sapiens coiled-coil domain containing 97 (CCDC97), mRNA.	161										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCTATGCTGCCCTGCGAGAGC	0.642000														42			13		0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397451	42397451	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42397451G>A	uc002ign.2	-	11	1152	c.998C>T	c.(997-999)tCc>tTc	p.S333F	SLC25A39_uc002igm.2_Missense_Mutation_p.S325F|SLC25A39_uc010wiw.1_Missense_Mutation_p.S310F	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	333					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GATGGCACAGGAGGGGGCAGC	0.622000														4			88		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790861	95790861	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:95790861G>A	uc001kjk.3	+	1	692	c.58G>A	c.(58-60)Gtt>Att	p.V20I	PLCE1_uc010qnx.2_Missense_Mutation_p.V20I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	20					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGAAAAGTGGTTTCTGCCCA	0.418000														3			42		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13845068	13845068	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13845068A>C	uc003jfd.2	-	31	5191	c.5149T>G	c.(5149-5151)Ttt>Gtt	p.F1717V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1717	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1716L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACGAAGAAAAACCGAGGAAAG	0.433000									Kartagener syndrome					87			16		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131228	45131228	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45131228A>G	uc002xsa.3	-	3	1281	c.819T>C	c.(817-819)tcT>tcC	p.S273S	ZNF334_uc002xsb.3_Silent_p.S212S|ZNF334_uc002xsd.3_Silent_p.S212S|ZNF334_uc002xsc.3_Silent_p.S250S|ZNF334_uc010ghl.3_Silent_p.S249S			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAATGAGGGTAGATCTCTTAG	0.403000														57			28		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286954	130286954	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130286954A>G	uc010htl.3	+	4	1938	c.1907A>G	c.(1906-1908)gAa>gGa	p.E636G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	636	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATAGGACCTGAAAACTTCAGC	0.418000														81			17		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118092	194118092	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:194118092G>A	uc003ftv.1	-	1	951	c.920C>T	c.(919-921)gCc>gTc	p.A307V	GP5_uc021xiz.1_Missense_Mutation_p.A307V	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	307					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.P306L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAAGGCGGCGGCGGGCAGGGT	0.716000														11			40		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504337	16504337	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:16504337G>A	uc003goz.3	-	7	1367	c.1051C>T	c.(1051-1053)Ccg>Tcg	p.P351S	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Missense_Mutation_p.P323S|LDB2_uc003gpb.3_Missense_Mutation_p.P349S|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	351							LIM domain binding|transcription cofactor activity	p.P351P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTGTTCCACGGGCTGTTGTTC	0.517000														12			124		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802451	45802451	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45802451C>T	uc003bgc.3	-	3	557	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	SMC1B_uc003bgd.3_Missense_Mutation_p.E169K|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	169					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTTTTCTTCATATTCTCCT	0.358000														23			16		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833173	61833173	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61833173C>T	uc001jky.3	-	36	7804	c.7466G>A	c.(7465-7467)gGa>gAa	p.G2489E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2489					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTAGGGGGTCCTGCATGGTC	0.438000														34			60		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21215499	21215499	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:21215499A>G	uc010bwn.1	-	8	1023	c.941T>C	c.(940-942)cTc>cCc	p.L314P	ZP2_uc002dii.2_Missense_Mutation_p.L275P|ZP2_uc010bwo.3_Missense_Mutation_p.L314P	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	275					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGGTATGGTGAGAGTCATGTG	0.453000														47			21		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928497	69928497	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69928497T>G	uc003dnz.3	+	1	480	c.317T>G	c.(316-318)cTt>cGt	p.L106R	MITF_uc011bgb.2_Missense_Mutation_p.L54R|MITF_uc003doa.3_Missense_Mutation_p.L105R|MITF_uc003dob.3_Missense_Mutation_p.L90R|MITF_uc003doc.1_Non-coding_Transcript	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	106					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCCACCACCCTTCCCTCTGCC	0.557000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							119			12		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913502	32913502	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32913502T>G	uc001uub.1	+	10	5237	c.5010T>G	c.(5008-5010)gcT>gcG	p.A1670A		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1670					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGCCTTAGCTTTTTACACAA	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				21			5		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088697	43088697	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:43088697G>A	uc001jaf.1	-	4	1816	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.T455T|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	567						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTTGAGAGAGGGTTGACTTAT	0.393000														22			21		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149453039	149453039	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149453039A>C	uc003lrl.3	-	5	1102	c.907T>G	c.(907-909)Ttg>Gtg	p.L303V	CSF1R_uc011dcd.2_Missense_Mutation_p.L155V|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.L303V|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	303	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCAGAGCTCAAGTTCAAGTAG	0.502000														13			23		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47782730	47782730	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47782730T>G	uc002xud.3	-	2	420	c.9A>C	c.(7-9)caA>caC	p.Q3H	STAU1_uc002xua.3_Intron|STAU1_uc002xub.3_Intron|STAU1_uc002xuc.3_Intron|STAU1_uc002xue.3_Intron|STAU1_uc002xuf.3_Intron|STAU1_uc002xug.3_Missense_Mutation_p.Q3H	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	3						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCACTTGAACTTGAGACATGG	0.413000														30			18		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104044090	104044090	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:104044090G>A	uc003hxb.1	-	42	7171	c.7081C>T	c.(7081-7083)Cct>Tct	p.P2361S	CENPE_uc003hxc.1_Missense_Mutation_p.P2240S	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2361	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTGTGGTAGGATTAACCTGG	0.368000														32			47		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564652	176564652	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176564652G>A	uc001gkz.3	+	2	3076	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PAPPA2_uc001gky.1_Missense_Mutation_p.D638N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	638	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.N637N(1)		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						CATGCTGAACGACTTTGACGA	0.602000														20			36		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341300	240341300	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240341300G>A	uc010pye.2	+	2	2087	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	FMN2_uc010pyd.2_Missense_Mutation_p.R621Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	621					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	p.R764L(1)		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)			TTTCCTAGGCGAGTTCCATCC	0.448000														35			23		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50131544	50131544	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50131544C>T	uc010njr.2	-	12	2043	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	667					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGATCATCTCTGTGGGGTAC	0.517000														1			18		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562927	176562927	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176562927A>C	uc003mfr.4	+	1	961	c.823A>C	c.(823-825)Aat>Cat	p.N275H	NSD1_uc003mft.4_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.N275H|NSD1_uc011dfx.2_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.N275H|NSD1_uc003mfq.3_Missense_Mutation_p.N275H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	275					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAACTCAATAAATTTATCTTT	0.398000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				15			8		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822656	121822656	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121822656T>G	uc003eet.3	+	2	490	c.362T>G	c.(361-363)aTt>aGt	p.I121S	CD86_uc011bjo.2_Missense_Mutation_p.I39S|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.I115S|CD86_uc021xcz.1_Missense_Mutation_p.I115S	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	121	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACAGGAATGATTCGCATCCAC	0.433000														104			17		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017577	161017577	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161017577G>A	uc001fxl.3	-	11	3580	c.3234C>T	c.(3232-3234)ccC>ccT	p.P1078P	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Silent_p.P867P|ARHGAP30_uc001fxm.3_Silent_p.P924P|ARHGAP30_uc009wtx.3_Silent_p.P751P	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	1078					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGACAACAGGGGGTCAGGAA	0.582000														79			21		0	0	1	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3939940	3939940	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3939940C>T	uc010xia.2	+	4	595	c.381C>T	c.(379-381)gtC>gtT	p.V127V	ITGB1BP3_uc002lyz.4_Silent_p.V122V	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	122					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	p.E126*(2)		central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGACCGTCCCGTATGAAG	0.617000														13			17		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490305	141490305	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141490305C>T	uc003vwr.1	+	0	289	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	48					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					ACCTCATTATCCTGGGCCTGG	0.448000														45			44		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107049075	107049075	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107049075C>T	uc021ser.1	-	168		c.7052_splice	c.e168+1							Parts of antibodies, mostly variable regions.																		CATGAATCACCTTTTAAAATA	0.443000														93			70		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123508656G>A	uc003vlc.3	+	2	967	c.329G>A	c.(328-330)gGa>gAa	p.G110E	HYAL4_uc011knz.2_Missense_Mutation_p.G110E	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	110					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428000														44			27		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68631861	68631861	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:68631861A>C	uc010bib.3	-	10	1340	c.1253T>G	c.(1252-1254)cTc>cGc	p.L418R	ITGA11_uc002ari.3_Missense_Mutation_p.L418R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	418					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATGGTTCTTGAGCTCCTCGGG	0.627000														7			3		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81736953	81736953	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:81736953G>A	uc010tvu.2	-	4	2872	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	STON2_uc001xvk.1_Intron|STON2_uc010tvt.2_Missense_Mutation_p.P689S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	892					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AATAAGAGGGGGAGGGTAGTG	0.493000														56			52		0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48501948	48501948	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48501948C>T	uc001rrb.2	+	2	450	c.176C>T	c.(175-177)aCc>aTc	p.T59I	SENP1_uc001rqw.3_5'Flank|SENP1_uc001rqx.3_5'Flank|SENP1_uc001rqy.3_5'Flank|SENP1_uc001rqz.3_5'Flank|SENP1_uc009zkx.3_5'Flank|PFKM_uc001rra.2_5'UTR	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	0					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATCCAGACACCGTGGGAAGC	0.438000														217			58		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67049333	67049333	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:67049333G>A	uc003xvv.3	+	3	737	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TRIM55_uc003xvu.3_Missense_Mutation_p.E171K|TRIM55_uc003xvw.3_Missense_Mutation_p.E171K|TRIM55_uc003xvx.3_Missense_Mutation_p.E171K	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	171						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCATTAGTCTGAGCTCAGTGA	0.468000														19			22		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34667858	34667858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34667858C>T	uc001bxt.3	+	3	2282	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	C1orf94_uc001bxs.4_Nonsense_Mutation_p.Q292*	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	292							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTGCAGTATCAGGTCAGTGA	0.542000														77			9		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664671	160664671	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:160664671A>C	uc003qtf.3	-	6	1386	c.1212T>G	c.(1210-1212)cgT>cgG	p.R404R		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	404					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCCAAGGGTAACGGCGTCCGA	0.502000														40			34		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115018	119115018	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:119115018G>A	uc004bjn.3	+	15	4379	c.3998G>A	c.(3997-3999)gGg>gAg	p.G1333E	PAPPA_uc011lxq.2_Missense_Mutation_p.G708E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1333	Sushi 2.				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						ATGGAGGATGGGCTGTGGTCC	0.582000														27			35		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487421	248487421	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248487421G>A	uc010pzk.2	-	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAGCCCAGGATCCAGGAGA	0.478000														141			121		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924072	45924072	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45924072C>T	uc001nbr.3	+	4	1079	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	252	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGGTGGTCCCCCTGCTGCCCC	0.701000														10			9		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768311	117768311	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:117768311C>T	uc001twn.2	-	1	1275	c.564G>A	c.(562-564)gcG>gcA	p.A188A	NOS1_uc001twm.2_Silent_p.A188A	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.A188T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGCTTTCTTCGCGGGGTCCT	0.632000														7			72		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181735723	181735723	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181735723C>T	uc009wxt.3	+	34	5052	c.4857C>T	c.(4855-4857)ttC>ttT	p.F1619F	CACNA1E_uc001gow.3_Silent_p.F1619F|CACNA1E_uc009wxs.3_Silent_p.F1600F|CACNA1E_uc001gox.1_Silent_p.F845F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1619					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCTTTTCTTCATTTATGCCA	0.473000														16			18		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631709	156631709	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:156631709T>C	uc003iov.3	+	6	928	c.392T>C	c.(391-393)gTt>gCt	p.V131A	GUCY1A3_uc003iou.2_Missense_Mutation_p.V131A|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V131A|GUCY1A3_uc010iqd.3_Missense_Mutation_p.V130A|GUCY1A3_uc003iow.3_Missense_Mutation_p.V131A|GUCY1A3_uc003iox.3_Missense_Mutation_p.V131A|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.V131A|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.V131A	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	131				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCAGTGGAGGTTATCAAAGAA	0.378000														28			12		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333577	9333577	+	Splice_Site	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:9333577A>T	uc001qvl.3	-	15	1868	c.1839_splice	c.e15+1	p.S613_splice	PZP_uc009zgl.3_Splice_Site_p.S482_splice	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTGGAAACTCACTGAGGACAC	0.542000														20			5		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577387	196577387	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196577387C>T	uc001gtd.1	-	0	113	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	KCNT2_uc001gte.1_Missense_Mutation_p.R18Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R18Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.R18Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R18Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	18						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAATCTCGAAACCTGTA	0.493000														60			39		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212800080	212800080	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:212800080C>T	uc010pth.1	-	0		c.34G>A			FAM71A_uc001hjk.3_3'UTR			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TTCCAGCGTTCTTTACTGCCG	0.483000														22			25		0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43023314	43023314	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:43023314T>G	uc003bcz.3	-	6	713	c.629A>C	c.(628-630)aAc>aCc	p.N210T	CYB5R3_uc011aps.2_Missense_Mutation_p.N243T|CYB5R3_uc021wqn.1_Missense_Mutation_p.N187T|CYB5R3_uc003bcy.3_Missense_Mutation_p.N187T|CYB5R3_uc003bcx.3_Missense_Mutation_p.N187T	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	210					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACTGACCTGGTTGGCAAAGAG	0.607000														29			6		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193279	28193279	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:28193279G>A	uc003adj.3	-	0	4208	c.3253C>T	c.(3253-3255)Cct>Tct	p.P1085S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1085							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCACGGGGAGGGAGTTTGGGC	0.657000			T	ETV6	"""AML, meningioma"""									7			8		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42794141	42794141	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:42794141A>C	uc003cly.4	-	3	523	c.439T>G	c.(439-441)Ttg>Gtg	p.L147V	CCDC13_uc003clz.2_Missense_Mutation_p.L147V|CCDC13_uc011azq.1_Missense_Mutation_p.L147V	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	147										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCTGCCATCAACAGCCGGTTC	0.522000														56			21		0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79282801	79282801	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:79282801G>A	uc010nmg.1	+	6	979	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TBX22_uc004edi.1_Missense_Mutation_p.R162K|TBX22_uc004edj.1_Missense_Mutation_p.R282K	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	282					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAAGGATTTAGAGATACTGGA	0.303000														6			10		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353904	77353904	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:77353904G>A	uc002ffc.4	-	15	2793	c.2374C>T	c.(2374-2376)Cga>Tga	p.R792*	ADAMTS18_uc010chc.1_Nonsense_Mutation_p.R380*|ADAMTS18_uc002ffe.1_Nonsense_Mutation_p.R488*	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	792	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGAGGCTTCGAACTGCGAGG	0.537000														6			32		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636167	7636167	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7636167C>T	uc001qsz.3	-	11	3012	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N	CD163_uc001qta.3_Missense_Mutation_p.D962N|CD163_uc009zfw.2_Missense_Mutation_p.D995N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	962	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACCTGAGCATCGTCCAAGTCC	0.517000														46			35		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815679	31815679	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:31815679T>G	uc001ivs.4	+	8	2925	c.2862T>G	c.(2860-2862)caT>caG	p.H954Q	ZEB1_uc001ivr.4_Missense_Mutation_p.H736Q|ZEB1_uc010qef.2_Missense_Mutation_p.H736Q|ZEB1_uc001ivu.4_Missense_Mutation_p.H955Q|ZEB1_uc010qeh.2_Missense_Mutation_p.H887Q|ZEB1_uc001ivv.4_Missense_Mutation_p.H934Q|ZEB1_uc001ivt.4_Missense_Mutation_p.H736Q|ZEB1_uc009xlo.2_Missense_Mutation_p.H937Q|ZEB1_uc009xlp.3_Missense_Mutation_p.H938Q	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	954					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGCGATTACATTCTGGAGAAA	0.378000														52			7		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42533085	42533085	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:42533085G>A	uc010dni.3	+	3	4076	c.3780G>A	c.(3778-3780)acG>acA	p.T1260T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1260						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTCATGCACGAAAAGATACT	0.537000									Schinzel-Giedion syndrome					4			25		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55136144G>A	uc010rif.2	+	0	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000														67			36		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141946141	141946141	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141946141T>A	uc002tvj.1	-	6	1834	c.862A>T	c.(862-864)Atg>Ttg	p.M288L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	288					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATCGCCATTTGTTGCACA	0.393000										TSP Lung(27;0.18)				16			26		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632450	32632450	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:32632450T>G	uc003zrg.1	-	0	3218	c.3128A>C	c.(3127-3129)gAa>gCa	p.E1043A	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1043					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCAATCACTTCCCAGCGGGA	0.483000														174			10		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084287	17084287	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17084287C>T	uc010ock.2	-	12	1730	c.1730G>A	c.(1729-1731)gGg>gAg	p.G577E	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.G177E					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACACTTGGTCCCTGGAGGCAC	0.582000														476			23		0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167403309	167403309	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167403309A>G	uc001gei.4	-	5	486	c.341T>C	c.(340-342)cTg>cCg	p.L114P	CD247_uc001gej.4_Missense_Mutation_p.L113P	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	114	ITAM 2.				T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			ATCTTTCTGCAGTTCCTGCAG	0.493000														160			34		0	0	1	0	0
FAM54B	56181	broad.mit.edu	37	1	26156151	26156151	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26156151A>C	uc010oet.2	+	5	836	c.702A>C	c.(700-702)ccA>ccC	p.P234P	FAM54B_uc001bkq.4_Silent_p.P201P|FAM54B_uc001bkr.4_Missense_Mutation_p.H165P|FAM54B_uc009vrz.3_Silent_p.P186P|FAM54B_uc001bks.4_Silent_p.P201P|FAM54B_uc001bkt.4_Silent_p.P201P|FAM54B_uc001bku.4_Missense_Mutation_p.H162P|FAM54B_uc001bkv.4_Silent_p.P104P			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	201										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGCTTCCATCAGTCCCCC	0.502000														132			25		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462821	21462821	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:21462821C>T	uc003cce.3	-	7	1481	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	358						nucleus	nucleic acid binding|zinc ion binding	p.R358Q(2)|p.R358*(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGAGCAGTTCGAAGACTGAA	0.587000														5			9		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123014945	123014945	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123014945G>A	uc003egh.2	-	16	3049	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	ADCY5_uc021xdd.1_Missense_Mutation_p.L667F|ADCY5_uc003egg.2_Missense_Mutation_p.L675F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1017					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTTTCCAGAGGAAGTCGAGG	0.642000														73			19		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998479	29998479	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:29998479C>T	uc010bzm.2	+	14	2942	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.S849S|TAOK2_uc002dva.2_Silent_p.S962S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.S789S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	962	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGGGGTCCTCCTCTGGCCTCC	0.697000														34			56		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165271	123165271	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123165271G>A	uc004bkf.3	-	33	5301	c.5120C>T	c.(5119-5121)cCg>cTg	p.P1707L	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.P716L|CDK5RAP2_uc004bke.3_Missense_Mutation_p.P992L|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.P1628L|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.P972L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.P972L|CDK5RAP2_uc011lya.2_Missense_Mutation_p.P972L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1477L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1707					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.P1707S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GGACACACACGGAGTGCTAGT	0.572000														32			37		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151860080	151860080	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151860080T>G	uc003wla.3	-	42	10801	c.10582A>C	c.(10582-10584)Aat>Cat	p.N3528H	MLL3_uc003wkz.3_Missense_Mutation_p.N2589H|MLL3_uc003wky.3_Missense_Mutation_p.N1037H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3528					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAGAAAAATTTGGGCTTCCA	0.498000			N		medulloblastoma									93			28		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39888451	39888451	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39888451A>C	uc021olw.1	+	23	11348	c.11348A>C	c.(11347-11349)aAg>aCg	p.K3783T	MACF1_uc021ols.1_Missense_Mutation_p.K3281T|MACF1_uc001cdc.2_Missense_Mutation_p.K3260T|MACF1_uc021olt.1_Missense_Mutation_p.K3281T|MACF1_uc001cda.1_Missense_Mutation_p.K3168T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5348					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGTGGGAAGTTTCAAGAT	0.443000														133			7		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209353737	209353737	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:209353737G>A	uc010zjb.2	+	11	1396	c.1110_splice	c.e11-1	p.R370_splice	PTH2R_uc002vdb.3_Splice_Site_p.R359_splice|PTH2R_uc010fuo.1_Splice_Site	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	359						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTCCTTTAGGAAACTGGCCA	0.478000														20			25		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799812	5799812	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5799812G>A	uc010qzn.2	-	0	86	c.53C>T	c.(52-54)cCa>cTa	p.P18L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AATAAAAGATGGAGGAGTCAC	0.378000														4			49		0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570867	44570867	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44570867A>C	uc002oyf.1	+	4	1139	c.886A>C	c.(886-888)Agc>Cgc	p.S296R	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATGTAGTGTGAGCTTCCGTCT	0.453000														99			34		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8952616	8952616	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:8952616A>C	uc002qzc.2	-	5	595	c.413T>G	c.(412-414)gTt>gGt	p.V138G	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.V96G|KIDINS220_uc010yiw.1_Missense_Mutation_p.V139G	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	138					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATTGGGTAAACACTGTACTG	0.433000														22			13		0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789075	55789075	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55789075T>C	uc002qkd.3	-	3	684	c.350A>G	c.(349-351)cAg>cGg	p.Q117R	HSPBP1_uc002qjx.3_Missense_Mutation_p.Q163R|HSPBP1_uc002qkc.3_Missense_Mutation_p.Q117R	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	120					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCGCTCTTGCTGGTCGGCCGC	0.687000														18			5		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2674060	2674060	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2674060A>C	uc002klm.4	+	4	743	c.554A>C	c.(553-555)aAt>aCt	p.N185T		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	185					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTGATAGATAATGGAAGAGGA	0.353000														19			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224583	3224583	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3224583G>A	uc022aqr.1	-	19	3476	c.3086C>T	c.(3085-3087)tCg>tTg	p.S1029L	CSMD1_uc011kwj.2_Missense_Mutation_p.S422L|CSMD1_uc003wqe.3_Missense_Mutation_p.S186L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1030	CUB 6.					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)		GCCCTCGTACGAAATTGAGAA	0.468000														13			12		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457936	45457936	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:45457936C>T	uc001rol.3	-	0		c.1259G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GTACAGTTTTCACTCTGAGGA	0.428000														78			20		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379848	61379848	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61379848A>C	uc002ljk.4	+	4	446	c.275A>C	c.(274-276)cAa>cCa	p.Q92P	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	93					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAATTCTCTCAAATCAACCAG	0.428000														21			13		0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	806546	806546	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:806546T>G	uc002lpr.2	+	8	1137	c.1031T>G	c.(1030-1032)cTc>cGc	p.L344R	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.L370R|PTBP1_uc002lpq.2_Missense_Mutation_p.L363R	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	344	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCAACCTCAACCCAGAG	0.701000														37			5		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316821	78316821	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:78316821T>C	uc002bcy.4	-	5	1147	c.1147A>G	c.(1147-1149)Agc>Ggc	p.S383G	TBC1D2B_uc010bla.3_Missense_Mutation_p.S383G	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	383						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGCCGGCTGCTTGTGAAATAC	0.542000														42			25		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048738	42048738	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:42048738A>G	uc001cgz.4	-	3	2944	c.1731T>C	c.(1729-1731)agT>agC	p.S577S	HIVEP3_uc001cha.4_Silent_p.S577S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	577	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S576S(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAAACACGTGACTGCTGTGGC	0.597000														88			18		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535306	169535306	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169535306T>G	uc003mai.4	+	1	873	c.828T>G	c.(826-828)ccT>ccG	p.P276P	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	276					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCGCCCCTTGCCTTAACA	0.647000									Pendred syndrome					28			13		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237972278	237972278	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237972278C>T	uc001hyl.1	+	99	14496	c.14376C>T	c.(14374-14376)ttC>ttT	p.F4792F	RYR2_uc010pyb.1_Silent_p.F225F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4792					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)			TCCGAAAATTCTACAATAAAA	0.358000														99			97		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138461	18138462	+	Silent	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18138461_18138462CC>TT	uc002gsp.3	+	9	1180_1181	c.1119_1120CC>TT	c.(1117-1122)gacctg>gaTTtg	p.373_374DL>DL		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	373					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGGTGCTGGACCTGCAGACTCC	0.644000														33			32		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42453969	42453969	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42453969G>A	uc001zpd.3	-	24	2647	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V	VPS39_uc001zpc.3_Silent_p.V821V|VPS39_uc001zpb.3_Silent_p.V167V	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	832					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCTCTTCCTGGACCTGGAAGA	0.517000														52			36		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107179095	107179095	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107179095G>A	uc021ser.1	-	37		c.2243C>T								Parts of antibodies, mostly variable regions.																		ACCAGCGCAGGACCAGACTCC	0.512000														48			22		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30977817	30977817	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30977817T>G	uc003xio.4	+	20	3295	c.2507T>G	c.(2506-2508)gTc>gGc	p.V836G	WRN_uc010lvk.3_Missense_Mutation_p.V303G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	836	Helicase C-terminal.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATTCGCCAAGTCATTCATTAC	0.418000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					154			5		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18534797	18534797	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:18534797T>A	uc002kte.3	-	30	4741	c.3800A>T	c.(3799-3801)aAg>aTg	p.K1267M		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1267	Auto-inhibitory.|PH.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTGTGGCACTTAACATGGCA	0.398000														52			20		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183646571	183646571	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183646571A>C	uc003fmg.3	-	26	4062	c.3897T>G	c.(3895-3897)atT>atG	p.I1299M	ABCC5_uc011bqt.2_Missense_Mutation_p.I827M|ABCC5_uc010hxl.3_Missense_Mutation_p.I1256M	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1299	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGCATCCCAAATCTGGTCTT	0.507000														132			5		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113302285	113302285	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:113302285C>T	uc021xcn.1	+	6	1428	c.777C>T	c.(775-777)ttC>ttT	p.F259F	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.F259F|SIDT1_uc011big.2_Silent_p.F12F	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	259						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGCAGTTCTTCGTGGTATTTG	0.458000														3			31		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101237502	101237502	+	Missense_Mutation	SNP	C	A	A	rs139376770		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101237502C>A	uc003yjh.2	+	13	1876	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	SPAG1_uc003yji.2_Missense_Mutation_p.P597Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	597					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCTTGGCATCCGGCAAAAGAG	0.517000														24			23		6.12954e-19	6.17601e-19	1	1	0
C9orf50	375759	broad.mit.edu	37	9	132377894	132377894	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:132377894T>G	uc004byc.4	-	3	951	c.749A>C	c.(748-750)aAg>aCg	p.K250T	C9orf50_uc022boo.1_Missense_Mutation_p.K249T	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	250										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CAGCGCAGCCTTGAGCCTGGG	0.687000														103			5		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1519155	1519155	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1519155T>G	uc003skn.2	-	30	4341	c.4240A>C	c.(4240-4242)Agc>Cgc	p.S1414R		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1414					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTGGGGAGCTGAGCAGGGTG	0.716000														12			4		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711912	89711912	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:89711912A>T	uc001kfb.3	+	5	1562	c.530A>T	c.(529-531)tAt>tTt	p.Y177F	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	177	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y177C(8)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y176del(2)|p.Y177fs*2(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.Y176*(1)|p.V175fs*3(1)|p.R172fs*5(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATGTGTATTATTATAGCTAC	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				6			38		0	0	1	0	0
PHF11	51131	broad.mit.edu	37	13	50092191	50092191	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:50092191G>A	uc001vdb.3	+	3	699	c.362G>A	c.(361-363)gGa>gAa	p.G121E	PHF11_uc010tgl.2_Missense_Mutation_p.G121E|PHF11_uc001vdc.3_Missense_Mutation_p.G82E|PHF11_uc001vdd.3_Non-coding_Transcript	NM_001040443	NP_001035534	Q9UIL8	PHF11_HUMAN	Homo sapiens PHD finger protein 11 (PHF11), transcript variant 1, mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		GCCACCGTGGGATGTGATTTA	0.348000														43			12		0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507711	145507711	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145507711C>T	uc001ent.2	+	0	155	c.45C>T	c.(43-45)ttC>ttT	p.F15F	RBM8A_uc001enu.2_Silent_p.F15F	NM_005105	NP_005096	Q9Y5S9	RBM8A_HUMAN	Homo sapiens RNA binding motif protein 8A (RBM8A), mRNA.	15					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAAGATTTCGCCATGGATG	0.547000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			4		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222399	8222399	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8222399G>A	uc002glc.3	+	12	2263	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	ARHGEF15_uc002gld.3_Missense_Mutation_p.G703E|ARHGEF15_uc010vuw.2_Missense_Mutation_p.G592E	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	703					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GATCCATCTGGACCCCCTACC	0.607000														3			93		0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30074201	30074201	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30074201C>T	uc003age.4	+	13	1906	c.1463C>T	c.(1462-1464)cCa>cTa	p.P488L	NF2_uc003afy.4_Missense_Mutation_p.P488L|NF2_uc003afz.4_Missense_Mutation_p.P405L|NF2_uc003agf.4_Missense_Mutation_p.P488L|NF2_uc003agb.4_Missense_Mutation_p.P411L|NF2_uc003agc.4_Missense_Mutation_p.P450L|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.P488L|NF2_uc003aga.4_Missense_Mutation_p.P446L|NF2_uc003agh.4_Missense_Mutation_p.P447L|NF2_uc003agi.4_Missense_Mutation_p.P405L|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Missense_Mutation_p.P152L|NF2_uc011akq.2_Missense_Mutation_p.P114L	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	488					Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.I487fs*28(1)|p.P486fs*26(1)|p.P483fs*17(1)|p.I487V(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AACCCAATTCCAGCACCGTTG	0.473000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					68			65		0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37978548	37978548	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:37978548A>C	uc003xkt.4	+	9	1104	c.1046A>C	c.(1045-1047)gAt>gCt	p.D349A	ASH2L_uc011lbk.2_Missense_Mutation_p.D210A|ASH2L_uc003xku.4_Missense_Mutation_p.D255A|ASH2L_uc010lwa.3_Missense_Mutation_p.D255A	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	349					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GCTGAGCCTGATCCGCACGCC	0.527000											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			5		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922866	150922866	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150922866A>G	uc003lue.4	-	8	7835	c.7822T>C	c.(7822-7824)Ttg>Ctg	p.L2608L		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2608	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATAGGCCAACACCTGGATA	0.453000														57			49		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606147	84606147	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84606147G>A	uc004amn.3	+	3	809	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	254						integral to membrane		p.E254D(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ATCACATTGAGAGAGTGGAGT	0.517000														176			85		0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866414	23866414	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:23866414T>C	uc002kvt.4	+	6	2030	c.1541T>C	c.(1540-1542)gTc>gCc	p.V514A	TAF4B_uc002kvu.4_Missense_Mutation_p.V514A|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	514	Required for interaction with P65/RELA.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCGGGCCCTGTCCTTTCACAA	0.448000														77			5		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9027773	9027773	+	Silent	SNP	C	T	T	rs41280042		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9027773C>T	uc001apm.3	+	5	651	c.627C>T	c.(625-627)ctC>ctT	p.L209L	CA6_uc009vmn.3_Silent_p.L149L	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	209					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCTCCAGCACTACT	0.542000														72			44		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351380	40351380	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40351380C>T	uc003gva.1	+	3	863	c.847C>T	c.(847-849)Cag>Tag	p.Q283*		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	283					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GACTGTATTTCAGCTAATGGT	0.517000														103			51		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767896	39767896	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39767896C>T	uc002hxg.4	-	1	748	c.609G>A	c.(607-609)agG>agA	p.R203R	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	203	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CTCACTTGGTCCTGAAGTCAT	0.612000														0			12		0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734556	16734556	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16734556C>T	uc010vwr.1	-	3	905	c.463G>A	c.(463-465)Gat>Aat	p.D155N						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		GGTGCGGCATCCATCTCCACG	0.597000														26			21		0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18959709	18959709	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:18959709A>C	uc004cyv.4	-	7	1232	c.802T>G	c.(802-804)Ttt>Gtt	p.F268V	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Missense_Mutation_p.F177V	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	268					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCCACTGCAAAGGCCGGGAAG	0.408000														62			4		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212614	62212614	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:62212614C>T	uc003xuh.3	+	1	552	c.228C>T	c.(226-228)atC>atT	p.I76I	CLVS1_uc003xug.2_Silent_p.I76I|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	76					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.I76I(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATGCCTTCATCCTGAGATTTC	0.458000														31			26		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795049	109795049	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109795049T>C	uc001dxa.4	+	0	2409	c.2348T>C	c.(2347-2349)cTg>cCg	p.L783P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	783	Cadherin 6.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTTACACCCTGGCCATTACT	0.567000														49			4		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149499034	149499034	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149499034G>A	uc010lpk.3	+	49	7477	c.7477G>A	c.(7477-7479)Gat>Aat	p.D2493N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2496	LDL-receptor class A 10.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCGGACGAGGATGGCTGTGG	0.692000														11			9		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771558	118771558	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:118771558G>A	uc001pug.3	-	5	3859	c.2894C>T	c.(2893-2895)cCt>cTt	p.P965L	BCL9L_uc009zal.3_Missense_Mutation_p.P960L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	965	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTTGGCAGAAGGCAAGGGCAC	0.637000														5			66		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304571	3304571	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3304571G>A	uc002cun.1	-	1	537	c.497C>T	c.(496-498)tCg>tTg	p.S166L	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	166					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.A165A(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAGGCCCTCCGAGGCCTTCTC	0.771000														4			7		0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124922160	124922160	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:124922160C>T	uc001lhe.2	+	6	1029	c.787C>T	c.(787-789)Cca>Tca	p.P263S	BUB3_uc001lhf.4_Missense_Mutation_p.P263S|BUB3_uc001lhd.2_Missense_Mutation_p.P263S|BUB3_uc010qud.1_Missense_Mutation_p.P183S	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	263					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TATTTGGGATCCATTTAACAA	0.408000														4			28		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227281	142227281	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142227281G>T	uc003ywd.1	-	4	1792	c.1484C>A	c.(1483-1485)tCg>tAg	p.S495*	SLC45A4_uc003ywc.1_Nonsense_Mutation_p.S495*|SLC45A4_uc010meq.1_Nonsense_Mutation_p.S493*	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	546					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCGAGTTCGAGGGGGCCTG	0.627000														23			38		1.30998e-17	1.3197e-17	1	1	0
STK11IP	114790	broad.mit.edu	37	2	220476518	220476518	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220476518C>T	uc002vml.3	+	17	2373	c.2330C>T	c.(2329-2331)cCg>cTg	p.P777L		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	777					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCAGGCACCGAGCACCCGT	0.597000														12			5		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150917400	150917400	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150917400A>T	uc001evu.2	+	8	1146	c.956A>T	c.(955-957)aAg>aTg	p.K319M	SETDB1_uc001evw.4_Missense_Mutation_p.K319M|SETDB1_uc009wmf.2_Missense_Mutation_p.K319M|SETDB1_uc001evv.2_Missense_Mutation_p.K319M|SETDB1_uc009wmg.2_Missense_Mutation_p.K319M	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	319	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACAGTGAAAAAGACTTGGGAG	0.478000														32			11		0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396416	54396416	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:54396416G>A	uc001seq.3	+	1	837	c.741G>A	c.(739-741)atG>atA	p.M247I		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	247					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GGATGAAGATGAAAAAGATGA	0.473000														3			46		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52511636	52511636	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52511636T>C	uc003ded.4	+	8	1099	c.965T>C	c.(964-966)tTg>tCg	p.L322S	NISCH_uc003dec.1_Missense_Mutation_p.L322S	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	322	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACAATGGATTGCTGGTTGTG	0.537000														87			17		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946398	71946398	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71946398C>T	uc001osf.3	+	22	2709	c.2562C>T	c.(2560-2562)acC>acT	p.T854T	INPPL1_uc001osg.3_Silent_p.T612T	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	854					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTTCCTGACCTTCCTATCCC	0.587000														142			86		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969850	200969850	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200969850C>T	uc001gvs.2	-	9	1778	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KIF21B_uc009wzl.2_Silent_p.E487E|KIF21B_uc001gvr.2_Silent_p.E487E|KIF21B_uc010ppn.2_Silent_p.E487E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E486K(1)		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						CTCACCGTAGCTCCTCGATCT	0.637000														35			33		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762807	53762807	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53762807G>A	uc002qbi.2	+	0	1263	c.1179G>A	c.(1177-1179)agG>agA	p.R393R		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	393					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATGATTTCAGGAAAATGTGAA	0.443000														90			13		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47866971	47866971	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:47866971C>T	uc003tny.2	-	44	6865	c.6831G>A	c.(6829-6831)gaG>gaA	p.E2277E	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Silent_p.E4E	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2277					cell-cell adhesion	integral to membrane		p.E2277E(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGTGCGACTCTCTCTCCTCA	0.662000														41			26		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989599	47989599	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47989599A>G	uc002xur.1	-	1	2664	c.2498T>C	c.(2497-2499)cTt>cCt	p.L833P	KCNB1_uc002xus.1_Missense_Mutation_p.L833P	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	833					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGGTTCTCAAGTTTGCACTT	0.532000														52			10		0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846518	143846518	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:143846518G>A	uc003yxb.3	-	3	823	c.195C>T	c.(193-195)ttC>ttT	p.F65F	LYNX1_uc003yxa.3_Silent_p.F31F	NM_023946	NP_076435	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 1, mRNA.	31	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCACCCTCCGAAGCCCGTGC	0.622000														8			12		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479983	130479983	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130479983A>C	uc004brq.1	+	3	425	c.358A>C	c.(358-360)Agg>Cgg	p.R120R	PTRH1_uc004brm.3_5'Flank|PTRH1_uc004bro.3_5'Flank|PTRH1_uc010mxm.3_5'Flank|PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Silent_p.R107R|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	120							binding	p.R120K(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GAACCTGCGAAGGGCCTACTC	0.632000														58			4		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727880	69727880	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:69727880T>G	uc002exm.2	+	11	4434	c.4098T>G	c.(4096-4098)agT>agG	p.S1366R	NFAT5_uc002exj.2_Missense_Mutation_p.S1290R|NFAT5_uc002exk.2_Missense_Mutation_p.S1290R|NFAT5_uc002exl.2_Missense_Mutation_p.S1384R|NFAT5_uc002exn.2_Missense_Mutation_p.S1383R|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.S1290R	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1366					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGTCACCTAGTTCTCAAGAGC	0.458000														55			4		0	0	1	0	0
KLF1	10661	broad.mit.edu	37	19	12995747	12995747	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12995747A>C	uc002mvo.3	-	2	1104	c.1041T>G	c.(1039-1041)gcT>gcG	p.A347A		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	347					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCGAAAAAGCACGTGGGC	0.642000														69			17		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220193455	220193456	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220193455_220193456CC>TT	uc001hly.1	-	9	1493_1494	c.1223_1224GG>AA	c.(1222-1224)tgg>tAA	p.W408*	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Nonsense_Mutation_p.W159*|EPRS_uc001hlz.1_Nonsense_Mutation_p.W408*|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	408	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTCAATAATCCAGTAAAACTG	0.396000														43			41		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035196	141035196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:141035196G>A	uc003llm.3	-	30	4180	c.4102C>T	c.(4102-4104)Cag>Tag	p.Q1368*	ARAP3_uc003lll.3_Nonsense_Mutation_p.Q319*|ARAP3_uc011dbe.2_Nonsense_Mutation_p.Q1030*|ARAP3_uc003lln.3_Nonsense_Mutation_p.Q1199*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1368					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACCAGGGTCTGATTGGCAGAG	0.592000														21			15		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10672385	10672385	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10672385G>A	uc002moy.1	-	5	473	c.464C>T	c.(463-465)tCg>tTg	p.S155L	KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Missense_Mutation_p.S151L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	155	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTTTGCGACGATGTCTCCTG	0.607000														90			84		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769665	112769665	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112769665G>A	uc003kqm.2	-	0	1064	c.872C>T	c.(871-873)tCc>tTc	p.S291F	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGTTCCCCGGGAACTCTCCCC	0.632000														12			17		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322007	79322007	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:79322007A>G	uc010mpk.3	-	7	5307	c.5183T>C	c.(5182-5184)gTc>gCc	p.V1728A	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.V1550A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1728					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCAGCTGTGACCAAGAACTT	0.423000														42			10		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461453	11461453	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11461453G>A	uc001qzf.1	-	2	498	c.464C>T	c.(463-465)cCc>cTc	p.P155L	PRB4_uc001qzt.3_Missense_Mutation_p.P155L	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	218	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.607000										HNSCC(22;0.051)				204			189		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90340883	90340883	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:90340883G>A	uc002bop.4	-	14	2372	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	694	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCCTCCCAGGGCATGTACTGT	0.557000														103			39		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19610234	19610234	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:19610234C>T	uc004czm.3	-	10	1405	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	SH3KBP1_uc011mje.2_Silent_p.K102K|SH3KBP1_uc011mjf.2_Silent_p.K125K|SH3KBP1_uc004czl.3_Silent_p.K326K	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	363	Pro-rich.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CAGGAGGTATCTTTTTAATTT	0.388000														1			40		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109932	42109932	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42109932C>T	uc001zok.4	+	17	2208	c.1922_splice	c.e17+1	p.R641_splice	MAPKBP1_uc010bci.3_Splice_Site_p.R635_splice|MAPKBP1_uc010udb.2_Splice_Site_p.R474_splice|MAPKBP1_uc001zoj.4_Splice_Site_p.R635_splice|MAPKBP1_uc010bcj.3_Splice_Site_p.R142_splice|MAPKBP1_uc010bck.3_Splice_Site|MAPKBP1_uc010bcl.3_Splice_Site_p.R142_splice	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	641										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCGAAATATTCGGTGGGCGTC	0.577000														0			9		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326873	85326873	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85326873C>T	uc002bld.3	+	3	1303	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	323					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAAGGTAGCCCCAAAATGCC	0.542000														61			26		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947582	237947582	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237947582G>A	uc001hyl.1	+	89	12690	c.12570G>A	c.(12568-12570)gtG>gtA	p.V4190V	RYR2_uc010pya.2_Silent_p.V605V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4190					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)			AACTCTTTGTGAACTTCTGCG	0.507000														47			39		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62555453	62555453	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:62555453C>T	uc003xuj.3	-	9	1053	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	ASPH_uc011leg.2_Missense_Mutation_p.E233K|ASPH_uc003xuo.2_Missense_Mutation_p.E243K|ASPH_uc003xul.3_Missense_Mutation_p.E248K|ASPH_uc011lei.2_Missense_Mutation_p.E248K|ASPH_uc011lej.2_Missense_Mutation_p.E205K|ASPH_uc011leh.2_Missense_Mutation_p.E229K|ASPH_uc003xum.3_Missense_Mutation_p.E262K|ASPH_uc003xun.3_Missense_Mutation_p.E219K|ASPH_uc011lek.2_Missense_Mutation_p.E243K	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	262	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAACCTTGTTCCTCATAGACT	0.318000														12			4		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954750	10954750	+	Silent	SNP	G	A	A	rs140600741		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10954750G>A	uc001qyv.3	-	0	477	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	140					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TAAACACAGAGAGAACCACGC	0.423000														19			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585599	82585599	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82585599C>T	uc003uhx.2	-	4	4959	c.4670G>A	c.(4669-4671)cGa>cAa	p.R1557Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1557Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1488					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						GATTTGTTTTCGAATGAAGTC	0.418000														41			33		0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	800138	800138	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:800138T>G	uc001lro.2	-	13	2414	c.2267A>C	c.(2266-2268)aAg>aCg	p.K756T	SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Missense_Mutation_p.K599T|PIDD_uc001lrm.1_Missense_Mutation_p.K443T|PIDD_uc001lrn.2_Missense_Mutation_p.K599T|PIDD_uc001lrk.2_Missense_Mutation_p.K739T|PIDD_uc001lrp.2_Missense_Mutation_p.K401T	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	756					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CACCGGCAGCTTGATGGGCAG	0.701000														14			3		0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045674	193045674	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:193045674T>G	uc001gss.3	+	3	1221	c.845T>G	c.(844-846)cTa>cGa	p.L282R	TROVE2_uc001gsu.2_Missense_Mutation_p.L7R|TROVE2_uc001gsv.2_Missense_Mutation_p.L282R|TROVE2_uc009wyp.3_Missense_Mutation_p.L282R|TROVE2_uc001gsw.3_Missense_Mutation_p.L282R|TROVE2_uc009wyq.3_Missense_Mutation_p.L282R|TROVE2_uc001gsx.2_Missense_Mutation_p.L282R	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	282	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ACTGCATTACTAAGGAATCTA	0.323000														71			4		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151753	3151753	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:3151753G>A	uc002klp.3	-	11	2116	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	MYOM1_uc002klq.3_Silent_p.F594F	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	594	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCGAGATGGGAAACCTATTC	0.458000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			38		0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815450	30815450	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30815450A>T	uc002hhn.3	+	1	1033	c.812A>T	c.(811-813)aAg>aTg	p.K271M	CDK5R1_uc010wca.1_Missense_Mutation_p.K271M|CDK5R1_uc021tux.1_Missense_Mutation_p.K271M|CDK5R1_uc010ctc.3_Missense_Mutation_p.K35M	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1), mRNA.	271					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			ATGAGCTCAAAGATGCTGCAG	0.567000														85			8		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341100	8341100	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8341100C>T	uc003zkk.3	-	40	5859	c.5116G>A	c.(5116-5118)Gat>Aat	p.D1706N	PTPRD_uc003zkp.3_Missense_Mutation_p.D1300N|PTPRD_uc003zkq.3_Missense_Mutation_p.D1299N|PTPRD_uc003zkr.3_Missense_Mutation_p.D1290N|PTPRD_uc003zks.3_Missense_Mutation_p.D1299N|PTPRD_uc022bdj.1_Missense_Mutation_p.D1296N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1706	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTATCCATCAATAAAACTG	0.383000										TSP Lung(15;0.13)				65			40		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25073475	25073475	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25073475T>C	uc001upl.3	-	4	547	c.441A>G	c.(439-441)caA>caG	p.Q147Q	PARP4_uc010tdc.2_Silent_p.Q147Q	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	147					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding	p.P146S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTCAAAATCTTGAGGAAGAT	0.294000														30			6		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216240068	216240068	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:216240068G>A	uc002vfa.3	-	37	6292	c.6026C>T	c.(6025-6027)tCc>tTc	p.S2009F	FN1_uc002vfc.3_Missense_Mutation_p.S1828F|FN1_uc002vfe.3_Missense_Mutation_p.S1918F|FN1_uc002vff.3_Missense_Mutation_p.S1918F|FN1_uc002vfg.3_Missense_Mutation_p.S1828F|FN1_uc002vfh.3_Missense_Mutation_p.S1828F|FN1_uc002vfi.3_Missense_Mutation_p.S2009F|FN1_uc002vfj.3_Missense_Mutation_p.S1919F|FN1_uc002vfb.3_Missense_Mutation_p.S1828F|FN1_uc002vez.3_Missense_Mutation_p.S203F|FN1_uc010zjp.2_Missense_Mutation_p.S546F|FN1_uc002vfk.1_Non-coding_Transcript|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript|FN1_uc010fvc.1_Missense_Mutation_p.S371F|FN1_uc010fvd.1_Missense_Mutation_p.S100F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1918	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACCAGCAAGGAATTGGGTGT	0.498000														35			10		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34535446	34535446	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34535446C>T	uc002xek.1	+	17	3047	c.2936C>T	c.(2935-2937)cCc>cTc	p.P979L		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAACTGGAGCCCCCTGAGCCG	0.562000														32			25		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134323029	134323029	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:134323029G>A	uc010hty.3	-	10	1440	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Nonsense_Mutation_p.Q439*	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	460						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATGCCCATCTGCTCCGAGAAC	0.597000														15			3		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348832	103348832	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103348832C>T	uc001dum.3	-	63	5248	c.4930G>A	c.(4930-4932)Gga>Aga	p.G1644R	COL11A1_uc001duk.3_Missense_Mutation_p.G828R|COL11A1_uc001dul.3_Missense_Mutation_p.G1632R|COL11A1_uc001dun.3_Missense_Mutation_p.G1593R|COL11A1_uc009weh.3_Missense_Mutation_p.G1516R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1632	Fibrillar collagen NC1.				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)		AAGGAATCTCCTGAGCAACCT	0.353000														51			37		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050155	39050155	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:39050155A>C	uc002rrf.3	-	16	3370	c.3271T>G	c.(3271-3273)Ttg>Gtg	p.L1091V	DHX57_uc002rrd.4_Missense_Mutation_p.L475V|DHX57_uc002rre.3_Missense_Mutation_p.L524V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1091							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTAAAAGCCAAACTGGCAGCA	0.463000														19			8		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475278	16475278	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16475278T>A	uc001aya.2	-	2	573	c.418A>T	c.(418-420)Acc>Tcc	p.T140S	EPHA2_uc010oca.2_Missense_Mutation_p.T140S	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	140					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCAATCTTGGTGAACAGGCGC	0.607000														71			13		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196392207	196392207	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196392207G>A	uc001gtd.1	-	11	1218	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.S386S|KCNT2_uc001gtf.1_Silent_p.S386S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Silent_p.S386S|KCNT2_uc009wyv.1_Silent_p.S361S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	386						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTCACAACGGCTACTGAGAA	0.308000														12			8		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97221549	97221549	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:97221549A>C	uc004aur.3	+	11	1645	c.1376A>C	c.(1375-1377)cAa>cCa	p.Q459P	HIATL1_uc011luh.2_3'UTR	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	459					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGTGGAGTTCAAAAACACAGT	0.502000														42			4		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793036	31793036	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31793036T>A	uc003tcm.2	-	17	2553	c.2092A>T	c.(2092-2094)Aag>Tag	p.K698*	PDE1C_uc003tcn.1_Nonsense_Mutation_p.K698*|PDE1C_uc003tco.2_Nonsense_Mutation_p.K758*	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	698					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)			TTCTGAATCTTTTTCATTTTG	0.468000														160			138		0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97369198	97369198	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:97369198G>A	uc003uop.4	+	6	602	c.356G>A	c.(355-357)aGg>aAg	p.R119K	TAC1_uc003uoq.4_Missense_Mutation_p.R101K|TAC1_uc003uor.4_Missense_Mutation_p.R104K|TAC1_uc003uos.4_Missense_Mutation_p.R86K	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	119					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GCTTATGAAAGGAGTGCAATG	0.323000														16			7		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797106	42797106	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42797106T>G	uc003osn.1	+	5	1186	c.1035T>G	c.(1033-1035)gcT>gcG	p.A345A	KIAA0240_uc003osm.1_Silent_p.A345A|KIAA0240_uc011duw.1_Silent_p.A345A|KIAA0240_uc003oso.1_Silent_p.A345A|KIAA0240_uc003osp.1_Silent_p.A345A	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	345										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TCTCTTTTGCTTCTGCAAGCT	0.458000														194			21		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013730	49013730	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49013730C>T	uc002pjk.3	-	2	283	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AAGCCGACATCGCCCCGTTTG	0.602000														8			6		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47985689	47985689	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47985689C>T	uc002zjo.2	+	35	4411	c.4228C>T	c.(4228-4230)Cat>Tat	p.H1410Y	DIP2A_uc011afz.1_Missense_Mutation_p.H1406Y|DIP2A_uc002zjs.2_Missense_Mutation_p.H90Y|DIP2A_uc002zjt.2_Non-coding_Transcript	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1410					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAGGCGCTTCATGCCGACCA	0.582000														2			62		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102662101	102662101	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102662101C>T	uc001phi.2	-	7	1302	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G321R	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	387	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TAGGTTTTTCCAGTGTTTTCC	0.413000														8			80		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883246	156883246	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156883246G>A	uc001fqj.1	+	19	2691	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N	PEAR1_uc001fqk.1_Missense_Mutation_p.D484N	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	859	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAAGGGCATGATAACCACAC	0.677000														35			40		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711867	83711867	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:83711867G>A	uc010vns.2	+	10	1744	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	CDH13_uc002fgx.3_Missense_Mutation_p.E447K|CDH13_uc010vnt.2_Missense_Mutation_p.E193K|CDH13_uc010vnu.2_Missense_Mutation_p.E408K	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	447	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTGGAAAATGAAGACCCACT	0.542000														3			27		0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28597020	28597020	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28597020C>T	uc002dqf.3	+	3	388	c.203C>T	c.(202-204)gCc>gTc	p.A68V	NPIPL1_uc010vct.2_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA.	68					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACCGCCAAGGCCGATGCAGAG	0.602000														36			16		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20774242	20774242	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:20774242G>A	uc001reh.2	+	4	1477	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	PDE3A_uc021qwa.1_Nonsense_Mutation_p.W157*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	479					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGATTCTTGGAATAATCCAG	0.383000														27			24		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396550	220396550	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220396550G>A	uc002vlz.3	+	1	1208	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	ASIC4_uc010fwi.2_Missense_Mutation_p.G345E|ASIC4_uc010fwj.2_Missense_Mutation_p.G345E|ASIC4_uc002vly.2_Missense_Mutation_p.G345E|ASIC4_uc002vma.3_Missense_Mutation_p.G345E|ASIC4_uc002vmb.3_5'UTR	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	345						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										AGCCGGGCAGGGGGCATGGGC	0.637000														90			32		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023686	18023686	+	Silent	SNP	C	T	T	rs140652043		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18023686C>T	uc001ban.3	+	28	3810	c.3651C>T	c.(3649-3651)ccC>ccT	p.P1217P	ARHGEF10L_uc001bao.3_Silent_p.P1178P|ARHGEF10L_uc001bap.3_Silent_p.P1173P|ARHGEF10L_uc001baq.3_Silent_p.P978P|ARHGEF10L_uc010ocs.2_Silent_p.P990P|ARHGEF10L_uc001bar.3_Silent_p.P920P|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.P241P	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1217					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCGACGACCCCGACATCTGGG	0.687000														31			19		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292089	163292089	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163292089G>A	uc002uch.2	-	7	1802	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	KCNH7_uc002uci.3_Missense_Mutation_p.L518F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	525					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTCTTCAAAAGACCAATTAAT	0.418000														21			10		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53560139	53560139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:53560139G>A	uc001xai.3	-	2	1266	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	DDHD1_uc001xaj.3_Nonsense_Mutation_p.R353*|DDHD1_uc001xah.3_Nonsense_Mutation_p.R346*|DDHD1_uc001xag.3_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	346					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ACATGGTTTCGACTCAACTTG	0.348000														26			22		0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643441	15643441	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:15643441G>A	uc010cov.3	+	8	775	c.525G>A	c.(523-525)gtG>gtA	p.V175V	TBC1D26_uc010cou.1_Silent_p.V175V|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	175	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACATCCTCGTGGCCTATTCTG	0.468000														6			108		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47463691	47463691	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:47463691G>A	uc002leb.2	-	14	2117	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	MYO5B_uc021ukb.1_Missense_Mutation_p.S609L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	610	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTGATCTTCGAAGATGACCC	0.532000														3			37		0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92675309	92675309	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:92675309G>A	uc001khe.1	-	7	1088	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	280					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.I280M(2)|p.N279S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACAGTTCTTGATGTTGAGAT	0.458000														0			24		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126129588	126129588	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:126129588T>G	uc004bnx.1	+	4	984	c.892T>G	c.(892-894)Ttc>Gtc	p.F298V	CRB2_uc004bnw.1_Missense_Mutation_p.F298V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	298	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.S297N(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCCTTCAGCTTCCGCCATGC	0.692000														28			6		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970518	19970518	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:19970518A>C	uc010rdm.2	+	10	2967	c.2606A>C	c.(2605-2607)aAg>aCg	p.K869T	NAV2_uc001mpp.3_Missense_Mutation_p.K782T|NAV2_uc001mpr.4_Missense_Mutation_p.K846T|NAV2_uc021qew.1_Missense_Mutation_p.K846T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	869						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCTCAGACAAGGCAGGAGAT	0.572000														75			6		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844410	77844410	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77844410C>T	uc001xtq.1	+	0	649	c.649C>T	c.(649-651)Cca>Tca	p.P217S	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.P217S	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	217										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGATTTTCCAAGTGAGAA	0.473000														54			38		0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41437746	41437746	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:41437746T>G	uc004dfk.4	-	9	921	c.795A>C	c.(793-795)gaA>gaC	p.E265D	CASK_uc004dfj.4_Missense_Mutation_p.E13D|CASK_uc004dfl.4_Missense_Mutation_p.E450D|CASK_uc004dfm.4_Missense_Mutation_p.E450D|CASK_uc004dfn.4_Missense_Mutation_p.E444D	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	450	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CACTGTAAACTTCATGTGCCA	0.383000														11			13		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245638	202245638	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202245638C>T	uc001gxu.3	+	4	633	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_uc001gxv.3_Silent_p.S159S|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	211						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S211S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617000														10			14		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575774	22575774	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22575774G>A	uc002nqt.2	-	3	385	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGCAAAATAAGAATATACAAC	0.279000														12			8		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846733	140846733	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140846733A>C	uc004cog.3	+	6	1119	c.974A>C	c.(973-975)gAt>gCt	p.D325A	CACNA1B_uc022bqn.1_Missense_Mutation_p.D325A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	325					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)	CAGACAAACGATGCGGCCGGC	0.592000														36			8		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57898081	57898081	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57898081A>C	uc001sog.3	+	11	1522	c.1368_splice	c.e11+1	p.K456_splice	MARS_uc001sof.1_Splice_Site|MARS_uc010srp.1_Splice_Site_p.K329_splice|MARS_uc010srq.1_Splice_Site_p.K222_splice	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	456					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GACCTGCCTAAGGTAAGTGAG	0.483000														19			20		0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95753230	95753230	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95753230C>A	uc002sub.3	-	11	1383	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	389					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome	p.R388L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTCAAGGGCCCCCGGGGGGAC	0.557000														33			19		1.33834e-09	1.34415e-09	1	1	0
C17orf100	388327	broad.mit.edu	37	17	6555499	6555499	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:6555499C>T	uc010clp.1	+	0	441	c.266C>T	c.(265-267)tCc>tTc	p.S89F	MED31_uc002gdg.4_5'Flank|MED31_uc002gdh.4_5'Flank	NM_001105520	NP_001098990	D3DTM5	D3DTM5_HUMAN	Homo sapiens chromosome 17 open reading frame 100 (C17orf100), mRNA.	89																	AGAGCCTCGTCCCTGAGGGTG	0.687000														2			43		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188759	3188759	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:3188759G>A	uc002klp.3	-	3	1092	c.758C>T	c.(757-759)tCc>tTc	p.S253F	MYOM1_uc002klq.3_Missense_Mutation_p.S253F	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	253						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCCTCAGGGACAGGCGTTC	0.423000														17			11		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48923052	48923052	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48923052C>T	uc002pjc.4	+	8	2160	c.2072C>T	c.(2071-2073)tCt>tTt	p.S691F	GRIN2D_uc010elx.3_5'UTR|Mir_324_uc021uwu.1_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	691						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GATACTGTGTCTGGGCTCAGT	0.612000														51			55		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762678	24762678	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24762678G>A	uc001iru.4	+	5	1771	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	KIAA1217_uc001irs.3_Silent_p.R376R|KIAA1217_uc001irt.4_Silent_p.R456R|KIAA1217_uc010qcy.2_Silent_p.R456R|KIAA1217_uc010qcz.2_Silent_p.R456R|KIAA1217_uc001irv.1_Silent_p.R306R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.R174R|KIAA1217_uc001irz.3_Silent_p.R174R|KIAA1217_uc001irx.3_Silent_p.R174R|KIAA1217_uc001iry.3_Silent_p.R174R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	456					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAATCAAGGAAATATCCGG	0.502000														42			43		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135494461	135494461	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:135494461G>A	uc004ezu.1	+	23	9264	c.8973G>A	c.(8971-8973)gaG>gaA	p.E2991E	GPR112_uc010nsb.1_Silent_p.E2786E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2991					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATGAAGGAGAGTGTGCGGG	0.443000														0			28		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423699	33423699	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33423699C>T	uc003oeq.3	+	1	1090	c.822C>T	c.(820-822)gcC>gcT	p.A274A	ZBTB9_uc021ywp.1_Silent_p.A274A	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	274	Pro-rich.		A -> G (in dbSNP:rs9469425).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGCTTCCTGCCCCTCCTGCAC	0.572000														62			22		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	T	T	rs147738330		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28358748C>T	uc001iua.1	-	14	1561	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R386Q|MPP7_uc009xla.2_Missense_Mutation_p.R386Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	386	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAGCAGCTTTCGTTTCAGTTC	0.438000														13			12		0	0	1	0	0
C14orf45	80127	broad.mit.edu	37	14	74500850	74500850	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74500850C>T	uc010tup.2	+	3	594	c.471C>T	c.(469-471)atC>atT	p.I157I	C14orf45_uc001xpm.1_Non-coding_Transcript	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	157										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AGAGAAAAATCCAAGTGGAGA	0.338000														6			8		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411369	5411369	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5411369C>T	uc010qzc.2	+	0	763	c.741C>T	c.(739-741)cgC>cgT	p.R247R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	247						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGCAGCGCCGTGCCTTTC	0.572000														44			20		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55602016	55602016	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:55602016T>A	uc002ryv.2	-	3	1119	c.277A>T	c.(277-279)Act>Tct	p.T93S	CCDC88A_uc010ypa.1_Missense_Mutation_p.T93S|CCDC88A_uc010yoz.1_Missense_Mutation_p.T93S|CCDC88A_uc010ypb.1_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	93					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTGCAAAGTCTCCTGTAAA	0.318000														54			7		0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35742765	35742765	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:35742765A>C	uc001wsy.1	+	7	2105	c.1745A>C	c.(1744-1746)aAg>aCg	p.K582T	KIAA0391_uc010tps.1_Missense_Mutation_p.K487T|KIAA0391_uc001wsz.1_Missense_Mutation_p.K566T|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Missense_Mutation_p.K210T	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	582					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTCCACCAAAAGACATAGAGA	0.453000														15			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678406	100678406	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100678406A>G	uc003uxp.1	+	2	3762	c.3709A>G	c.(3709-3711)Agc>Ggc	p.S1237G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1237	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTGAGGCTAGCACCCTTTC	0.522000														369			95		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16793317	16793317	+	Silent	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16793317T>A	uc002nes.3	+	3	643	c.552T>A	c.(550-552)tcT>tcA	p.S184S		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	184						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGCACATGTCTTTGTGAGTAT	0.567000														56			4		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938333	169938333	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:169938333T>C	uc010zdc.2	+	1	534	c.422T>C	c.(421-423)cTt>cCt	p.L141P	DHRS9_uc002uep.3_Missense_Mutation_p.L81P|DHRS9_uc002ueq.3_Missense_Mutation_p.L81P|DHRS9_uc002uer.1_Missense_Mutation_p.L81P|DHRS9_uc010zdd.2_Missense_Mutation_p.L81P|DHRS9_uc010zde.2_Missense_Mutation_p.L81P	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	81					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.L141L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CGTACTGTGCTTCTGGATGTG	0.478000														43			5		0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183920	48183920	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48183920T>C	uc002phh.4	+	5	1687	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	GLTSCR1_uc002phi.4_Missense_Mutation_p.L256P	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	498							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCAGATCCTGGCGGCCGCT	0.706000														60			13		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112779152	112779152	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112779152T>G	uc002thk.1	+	16	2465	c.2343T>G	c.(2341-2343)agT>agG	p.S781R	MERTK_uc002thl.1_Missense_Mutation_p.S605R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	781	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAAGTAAAAGTGATGTGGTAT	0.448000														56			14		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51170694	51170694	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51170694C>T	uc002psx.1	-	21	4542	c.4523G>A	c.(4522-4524)aGg>aAg	p.R1508K	SHANK1_uc002psw.1_Missense_Mutation_p.R892K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1508					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGGGGACCCCTTCCGCTCGT	0.751000														3			5		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138378395	138378395	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:138378395T>C	uc003ldo.3	-	5	573	c.367A>G	c.(367-369)Acc>Gcc	p.T123A	SIL1_uc003ldp.3_Missense_Mutation_p.T123A|SIL1_uc003ldq.1_5'UTR	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	123	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGGTGTTGGTGTTGATATCC	0.483000									Marinesco-Sjgren syndrome					41			34		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373248	59373248	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:59373248C>T	uc002afv.3	+	7	2341	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	RNF111_uc002afs.3_Missense_Mutation_p.P688S|RNF111_uc002aft.3_Missense_Mutation_p.P688S|RNF111_uc002afu.3_Missense_Mutation_p.P687S|RNF111_uc002afw.3_Missense_Mutation_p.P688S|RNF111_uc002afx.3_Missense_Mutation_p.P214S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	688	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TATTCCTCATCCTGTACATGC	0.507000														62			49		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502344	33502344	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:33502344C>T	uc001iwx.4	-	8	2107	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	NRP1_uc001iwv.4_Missense_Mutation_p.M528I|NRP1_uc001iwy.4_Missense_Mutation_p.M528I|NRP1_uc009xlz.3_Missense_Mutation_p.M528I|NRP1_uc001iww.4_Missense_Mutation_p.M347I|NRP1_uc001iwz.2_Missense_Mutation_p.M528I|NRP1_uc001ixa.2_Missense_Mutation_p.M528I|NRP1_uc001ixb.2_Missense_Mutation_p.M528I|NRP1_uc001ixc.1_Missense_Mutation_p.M528I	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	528	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CATCCATGATCATCTTCCAGT	0.532000														107			84		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92074738	92074738	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92074738C>T	uc001xzs.1	-	21	2749	c.2609G>A	c.(2608-2610)aGg>aAg	p.R870K	CATSPERB_uc010aub.1_Missense_Mutation_p.R392K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	870					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.Y869C(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGATGGAGGCCTGTAGTTTAT	0.328000														14			25		0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004336	102004336	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:102004336A>C	uc022cbi.1	+	0	413	c.413A>C	c.(412-414)gAt>gCt	p.D138A	BHLHB9_uc010nog.3_Missense_Mutation_p.D138A|BHLHB9_uc011mrq.2_Missense_Mutation_p.D138A|BHLHB9_uc011mrr.2_Missense_Mutation_p.D138A|BHLHB9_uc011mrs.2_Missense_Mutation_p.D138A|BHLHB9_uc011mrt.2_Missense_Mutation_p.D138A|BHLHB9_uc004ejo.3_Missense_Mutation_p.D138A|BHLHB9_uc011mru.2_Missense_Mutation_p.D138A|BHLHB9_uc011mrv.2_Missense_Mutation_p.D138A	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	138						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTAAGAATGATAAACCTGAA	0.537000														30			37		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037719	148037719	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:148037719C>T	uc004fcp.3	+	10	2623	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	AFF2_uc004fcq.3_Missense_Mutation_p.S705L|AFF2_uc004fcr.3_Missense_Mutation_p.S676L|AFF2_uc011mxb.2_Missense_Mutation_p.S680L|AFF2_uc004fcs.3_Missense_Mutation_p.S682L|AFF2_uc011mxc.2_Missense_Mutation_p.S356L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	715					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACAGATTCATCTACATCT	0.458000														4			77		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204151	56204151	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:56204151G>A	uc002lhj.4	-	4	3482	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	ALPK2_uc002lhk.1_Missense_Mutation_p.P421S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1090							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTCCCTCTGGGAGCTGCAGG	0.493000														7			83		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15430674	15430674	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:15430674C>T	uc001avm.4	+	12	2318	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	KAZN_uc001avs.4_Silent_p.F126F	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	679	SAM 3.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCGCCGTCTTCCACCCAGCCA	0.622000														8			4		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29527482	29527482	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:29527482G>T	uc002hgg.3	+	8	1314	c.931G>T	c.(931-933)Gga>Tga	p.G311*	NF1_uc002hge.2_Nonsense_Mutation_p.G311*|NF1_uc002hgf.2_Nonsense_Mutation_p.G311*|NF1_uc002hgh.3_Nonsense_Mutation_p.G311*|NF1_uc010csn.2_Nonsense_Mutation_p.G171*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	311					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCTGGCCATGGAGGAAGTAG	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				7			46		4.0181e-32	4.05445e-32	1	1	0
HSPA7	3311	broad.mit.edu	37	1	161576712	161576712	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161576712T>A	uc010pkp.1	+	0	864	c.632T>A	c.(631-633)gTt>gAt	p.V211D						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		GATGTGTCGGTTCTCTCCATT	0.612000														33			30		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976667	16976667	+	RNA	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16976667A>G	uc010och.2	+	13		c.2388A>G			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CGCGCTGGCCAGCCGTCTTCA	0.562000														141			14		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123839062	123839062	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123839062G>A	uc010nqy.3	-	4	880	c.816C>T	c.(814-816)atC>atT	p.I272I	ODZ1_uc011muj.2_Silent_p.I272I|ODZ1_uc004euj.3_Silent_p.I272I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	272	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGCACTGAAGATCGCAGAGG	0.488000														44			40		0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60540937	60540937	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:60540937G>A	uc009ynf.1	+	4	698	c.478G>A	c.(478-480)Gat>Aat	p.D160N	MS4A15_uc001npx.2_Missense_Mutation_p.D67N|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.D119N	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	160						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						TCTGCTCATGGATTTTGGTGT	0.572000														19			21		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23999861	23999861	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:23999861G>A	uc002dmd.3	+	2	435	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	PRKCB_uc002dme.3_Missense_Mutation_p.E80K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	80					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCGGTGCCATGAATTTGTCAC	0.512000														50			19		0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780329	65780329	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65780329G>A	uc001ogr.3	+	1	327	c.273G>A	c.(271-273)atG>atA	p.M91I	CST6_uc001ogs.1_Missense_Mutation_p.M1I	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	91					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						TCCTGACGATGGAGATGGGGA	0.607000														34			32		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169185	49169185	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49169185G>A	uc001rsh.4	-	9	2541	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	ADCY6_uc001rsi.4_Silent_p.F627F|ADCY6_uc001rsj.4_Silent_p.F627F|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	627					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CACGGCTCAGGAACTCATCCA	0.582000														48			91		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129506	10129506	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10129506T>C	uc002mmr.3	+	2	611	c.362T>C	c.(361-363)cTc>cCc	p.L121P		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	121					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTGTCCGTCTCGTCAAAGCT	0.592000														82			30		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45509014	45509014	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45509014C>T	uc001cnd.2	-	5	1714	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	496							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAATGTAATTCACGCCCCTCA	0.458000														82			45		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89940642	89940642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89940642C>T	uc003kju.3	+	14	2950	c.2854C>T	c.(2854-2856)Cag>Tag	p.Q952*	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	952	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTGGAGATCAGGAATTTTC	0.353000														24			20		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6025204	6025204	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6025204C>T	uc002wmo.2	-	3	1207	c.983G>A	c.(982-984)aGa>aAa	p.R328K		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	328						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TAGGACAGTTCTCTTTGCATC	0.517000														13			7		0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724555	112724555	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:112724555G>A	uc010ljv.2	-	1	739	c.222C>T	c.(220-222)ttC>ttT	p.F74F	GPR85_uc003vgp.1_Silent_p.F74F|GPR85_uc003vgq.2_Silent_p.F74F|GPR85_uc010ljw.1_Silent_p.F74F|GPR85_uc022akd.1_Silent_p.F74F	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACACAAATGGGAAACAAATTG	0.418000														61			44		0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38258410	38258410	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38258410C>T	uc003xlm.2	+	5	914	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	LETM2_uc011lbn.2_Missense_Mutation_p.R72C|LETM2_uc003xll.2_Missense_Mutation_p.R180C|LETM2_uc003xln.2_Missense_Mutation_p.R72C|LETM2_uc003xlo.2_Missense_Mutation_p.R72C	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	275	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAGATAGTTCGCTTCTCCAA	0.463000														87			64		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784312	90784312	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:90784312C>T	uc002bpc.3	+	3	351	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	GDPGP1_uc021suh.1_Missense_Mutation_p.P58S	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	58					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCCACAATCTCCCTTTGATGC	0.557000														47			89		0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388824	1388824	+	Silent	SNP	A	G	G	rs71299249		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1388824A>G	uc003gdf.2	+	0	3485	c.525A>G	c.(523-525)ggA>ggG	p.G175G		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	175					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGCCCGCCT	0.677000														202			95		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190611207	190611207	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:190611207A>C	uc002uqw.2	+	22	4247	c.4159A>C	c.(4159-4161)Aaa>Caa	p.K1387Q	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_3'UTR	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1387						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAAAGCAACAAAAAAGACCAA	0.323000														74			23		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105204295	105204295	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:105204295T>G	uc003vda.1	+	11	2018	c.1787T>G	c.(1786-1788)aTt>aGt	p.I596S	RINT1_uc010ljj.1_Missense_Mutation_p.I171S	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	596	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|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						GATGACATGATTAACCTCTTA	0.398000														54			7		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101009595	101009595	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:101009595A>C	uc002bwa.3	-	11	1437	c.866T>G	c.(865-867)gTt>gGt	p.V289G	CERS3_uc002bvz.3_Missense_Mutation_p.V278G|CERS3_uc002bwb.3_Missense_Mutation_p.V278G	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	278	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GAAAGGAAAAACAATGAGGCG	0.493000														64			19		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802402	233802402	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:233802402C>T	uc010pxo.1	+	1	585	c.417C>T	c.(415-417)gtC>gtT	p.V139V		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTACTCCGTCATTGGCATTC	0.587000														39			24		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593540	24593540	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:24593540G>A	uc003jgr.2	-	1	566	c.60C>T	c.(58-60)tgC>tgT	p.C20C	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	20					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCTGGAGAGCAGAAATGTG	0.403000										HNSCC(23;0.051)				92			30		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903938	21903938	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21903938G>A	uc001bet.3	+	11	1629	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	ALPL_uc010odo.2_Missense_Mutation_p.D403N|ALPL_uc010odp.2_Missense_Mutation_p.D381N|ALPL_uc010odn.2_Missense_Mutation_p.D406N|ALPL_uc001beu.4_Missense_Mutation_p.D458N	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	458					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CGGCGGGGAGGACGTGGCCGT	0.667000														62			29		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224296	51224296	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:51224296T>G	uc001wyi.3	-	17	3643	c.3452A>C	c.(3451-3453)gAg>gCg	p.E1151A	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.E1151A|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.E1151A	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1151					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCCCGGACCTCATCATCTTC	0.483000			T	PDGFRB	MPD									111			26		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752545	151752545	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151752545G>A	uc009wnb.1	-	3	485	c.303C>T	c.(301-303)atC>atT	p.I101I	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.I97I|TDRKH_uc001ezc.4_Silent_p.I101I|TDRKH_uc001eza.4_Silent_p.I101I|TDRKH_uc001ezd.4_Silent_p.I101I|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	101	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAAACCACTGATAAGCAGCA	0.502000														62			61		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25606733	25606733	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:25606733T>G	uc002rgh.3	-	18	2101	c.1851A>C	c.(1849-1851)gaA>gaC	p.E617D	DTNB_uc002rgg.3_Missense_Mutation_p.E246D|DTNB_uc010yko.2_Intron|DTNB_uc002rgi.3_Intron|DTNB_uc002rgj.3_Missense_Mutation_p.E587D|DTNB_uc002rgk.3_Missense_Mutation_p.E557D|DTNB_uc002rgl.3_Missense_Mutation_p.E550D|DTNB_uc002rgq.3_Missense_Mutation_p.E610D|DTNB_uc002rgn.3_Intron|DTNB_uc010ykp.2_Missense_Mutation_p.E406D|DTNB_uc002rgp.1_Missense_Mutation_p.E85D	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	617						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTTCTCTTCTTCTTCCT	0.532000														152			6		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76805839	76805839	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:76805839C>T	uc003hix.3	-	7	1011	c.654G>A	c.(652-654)gaG>gaA	p.E218E	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.E218E	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	218	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCATCAGGATCTCTACTGAAT	0.458000														50			102		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3446912	3446912	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3446912C>T	uc002fvr.2	-	4	644	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TRPV3_uc010vrh.1_Missense_Mutation_p.A92T|TRPV3_uc010vri.1_Missense_Mutation_p.A63T|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.A108T|TRPV3_uc010vrj.1_Missense_Mutation_p.A92T|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.A92T|TRPV3_uc002fvu.3_Missense_Mutation_p.A108T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	108						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTCCTTGGCCAGCTGTGCA	0.557000														75			51		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543277	46543277	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:46543277G>A	uc010tfw.1	-	12	3408	c.3402C>T	c.(3400-3402)gcC>gcT	p.A1134A	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Silent_p.A1134A|ZC3H13_uc001vat.1_Silent_p.A1134A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1134							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		aaatagtgatggcagatgtgc	0.512000														51			4		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28381074	28381074	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:28381074G>A	uc002het.3	+	9	2294	c.2102G>A	c.(2101-2103)aGg>aAg	p.R701K	EFCAB5_uc010wbi.1_Missense_Mutation_p.R444K|EFCAB5_uc010wbj.2_Missense_Mutation_p.R645K|EFCAB5_uc010wbk.2_Missense_Mutation_p.R358K|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.R580K|EFCAB5_uc010csf.3_Missense_Mutation_p.R580K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	701							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGGAAAAGAGGTCTTGGGAA	0.378000														0			8		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343043	48343043	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48343043C>T	uc002phq.4	+	3	923	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	240					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTCTCTGGCCCCTCCGTGGGA	0.647000														133			119		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39505984	39505984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39505984C>T	uc003xni.3	+	11	1223	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Nonsense_Mutation_p.Q366*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	390	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACATCAAAATCAACCAGTGTG	0.333000														21			17		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607704	42607704	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42607704G>A	uc003bcj.1	-	0	3742	c.3608C>T	c.(3607-3609)cCt>cTt	p.P1203L	TCF20_uc003bck.1_Missense_Mutation_p.P1203L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATTCCTGGAGGACCGCTGCT	0.498000														43			43		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690318	96690318	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96690318A>G	uc002svf.3	-	14	1749	c.1526T>C	c.(1525-1527)cTg>cCg	p.L509P	GPAT2_uc002sve.3_Missense_Mutation_p.L311P|GPAT2_uc002svd.3_Missense_Mutation_p.L328P|GPAT2_uc002svg.3_Missense_Mutation_p.L388P|GPAT2_uc010yuh.2_Missense_Mutation_p.L438P|GPAT2_uc002svh.3_Missense_Mutation_p.L509P	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	509					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGCAGGCTCAGTGAGTGCTG	0.652000														76			21		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431792	45431793	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45431792_45431793CC>TT	uc001wvw.3	+	0	377_378	c.168_169CC>TT	c.(166-171)gaccac>gaTTac	p.H57Y	FAM179B_uc001wvv.3_Missense_Mutation_p.H57Y|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.H57Y|FAM179B_uc001wvu.3_Missense_Mutation_p.H57Y	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	57							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGCGGGGGACCACGGTTCCTG	0.599000														17			17		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41493909	41493909	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:41493909T>G	uc001cgo.3	-	15	2309	c.1940A>C	c.(1939-1941)aAg>aCg	p.K647T	SCMH1_uc010ojr.2_Missense_Mutation_p.K467T|SCMH1_uc001cgp.3_Missense_Mutation_p.K586T|SCMH1_uc001cgr.3_Missense_Mutation_p.K564T|SCMH1_uc001cgq.3_Missense_Mutation_p.K578T|SCMH1_uc001cgs.3_Missense_Mutation_p.K635T|SCMH1_uc001cgt.3_Missense_Mutation_p.K564T|LOC100507178_uc021omd.1_Intron	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	647	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTAGGAGAGCTTGAGTGCAGG	0.592000														115			4		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39741499	39741499	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:39741499A>T	uc002xjl.3	+	13	1632	c.1386A>T	c.(1384-1386)cgA>cgT	p.R462R	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	462					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ACCAGTATCGAGAAGACTGGA	0.498000			T	NUP98	AML*									41			9		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684205	75684205	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75684205G>A	uc010oqz.1	-	15	1682	c.1616C>T	c.(1615-1617)cCa>cTa	p.P539L	SLC44A5_uc001dgt.2_Missense_Mutation_p.P500L|SLC44A5_uc001dgs.2_Missense_Mutation_p.P458L|SLC44A5_uc001dgr.2_Missense_Mutation_p.P458L|SLC44A5_uc001dgu.3_Missense_Mutation_p.P500L|SLC44A5_uc010ora.2_Missense_Mutation_p.P494L|SLC44A5_uc010orb.2_Missense_Mutation_p.P370L	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	500						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						AGTAAAAAGTGGATATCGTGG	0.428000														181			42		0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084898	7084898	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7084898A>C	uc001qsh.4	+	6	802	c.659A>C	c.(658-660)aAc>aCc	p.N220T	EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Intron	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	221	S-adenosyl-L-methionine binding (By similarity).				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCCATCAGTAACTACCCCCTT	0.468000														125			9		0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204304836	204304836	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:204304836T>G	uc002vad.3	-	13	3302	c.3077A>C	c.(3076-3078)aAg>aCg	p.K1026T		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1026					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTCCAGGCTTGGGGGGTGC	0.552000														74			8		0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1411451	1411452	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1411451_1411452GG>AA	uc002fsr.3	-	5	1012_1013	c.623_624CC>TT	c.(622-624)tcc>tTT	p.S208F	INPP5K_uc002fss.3_Missense_Mutation_p.S132F|INPP5K_uc002fsq.3_Missense_Mutation_p.S132F|INPP5K_uc010cjr.3_Missense_Mutation_p.S132F|INPP5K_uc010vql.2_Missense_Mutation_p.S116F|INPP5K_uc010vqm.2_Intron	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	208	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GATTTTTAATGGATTCCCGAAC	0.540000														444			119		0	0	1	0	0
MANBAL	63905	broad.mit.edu	37	20	35929789	35929789	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35929789C>T	uc002xgu.3	+	2	335	c.123C>T	c.(121-123)atC>atT	p.I41I	MANBAL_uc002xgv.3_Silent_p.I41I|MANBAL_uc002xgw.3_Non-coding_Transcript	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN	Homo sapiens mannosidase, beta A, lysosomal-like (MANBAL), transcript variant 1, mRNA.	41						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				TGGCCATCATCGTACCCATTC	0.592000														59			68		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35879046	35879046	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:35879046G>A	uc002hoa.3	-	21	4025	c.3942C>T	c.(3940-3942)ctC>ctT	p.L1314L	SYNRG_uc010wde.2_Silent_p.L1259L|SYNRG_uc010wdf.2_Silent_p.L1236L|SYNRG_uc002hoc.3_Silent_p.L1235L|SYNRG_uc002hoe.3_Silent_p.L1224L|SYNRG_uc002hod.3_Silent_p.L1179L|SYNRG_uc010wdg.2_Silent_p.L1108L|SYNRG_uc002hob.3_Silent_p.L1302L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1314					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGTTGTTCAGAGCAGGTCAG	0.527000														133			41		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293710	167293710	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167293710T>C	uc003fev.1	-	3	786	c.482A>G	c.(481-483)aAg>aGg	p.K161R	WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Missense_Mutation_p.K214R|WDR49_uc003few.1_Missense_Mutation_p.K502R	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	161										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATTACCTGCTTCAAGATAGA	0.368000														176			12		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640501	57640501	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57640501C>T	uc002qny.3	+	3	814	c.458C>T	c.(457-459)tCa>tTa	p.S153L	USP29_uc021vci.1_Missense_Mutation_p.S153L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	153					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTCAAAATCACCAACACAT	0.363000														84			36		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328484	80328484	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:80328484G>A	uc003hlu.3	-	0	889	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	291					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACACATTTACGACCCGTATTA	0.453000														28			50		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826272	46826272	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46826272C>T	uc003oyo.3	-	16	3657	c.3368G>A	c.(3367-3369)aGc>aAc	p.S1123N	GPR116_uc011dwj.1_Missense_Mutation_p.S678N|GPR116_uc011dwk.1_Missense_Mutation_p.S552N|GPR116_uc003oyp.3_Missense_Mutation_p.S981N|GPR116_uc003oyq.3_Missense_Mutation_p.S1123N|GPR116_uc010jzi.1_Missense_Mutation_p.S795N	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGGACCTGCTTGTTTCATG	0.532000														29			15		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130985128	130985128	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130985128C>T	uc022bob.1	+	8	1272	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	DNM1_uc022bnx.1_Silent_p.I395I|DNM1_uc022bny.1_Silent_p.I395I|DNM1_uc022bnz.1_Silent_p.I395I|DNM1_uc022boa.1_Silent_p.I395I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	395					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCAAGAATATCCATGGCATTA	0.542000														51			27		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294104	219294104	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219294104C>T	uc002vib.3	+	5	686	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.L222L|VIL1_uc002vic.1_Silent_p.L222L	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	222	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCCCGAAGCTGATGGAGGT	0.632000														37			50		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34485217	34485217	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:34485217C>T	uc003zum.3	+	2	352	c.159C>T	c.(157-159)gaC>gaT	p.D53D	DNAI1_uc011lom.1_Silent_p.D53D	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	53					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GACCCCCTGACCAGCTGGAGT	0.493000									Kartagener syndrome					48			20		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47747398	47747398	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:47747398G>A	uc022bvq.1	+	3	304	c.55_splice	c.e3-1	p.V19_splice	ZNF81_uc010nhy.2_Splice_Site_p.V19_splice	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GTTGTTACAGGTATCAGTGTC	0.418000														3			24		0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381809	48381809	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48381809A>T	uc003gya.4	+	3	950	c.806A>T	c.(805-807)aAt>aTt	p.N269I	SLAIN2_uc003gyb.1_5'Flank	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	269						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ATTGGATCCAATTATAAGCTA	0.358000														69			20		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186076	127186076	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:127186076G>A	uc004eum.3	-	0	307	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	37						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCCCAAGACGGAGCTGATGAC	0.468000														1			46		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968812	5968812	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5968812T>G	uc010qzt.2	+	0	236	c.236T>G	c.(235-237)cTc>cGc	p.L79R		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L79H(2)|p.C78*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTCTGCCTCACTGTCATC	0.562000														162			5		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170825899	170825899	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:170825899C>T	uc003fhh.2	-	19	2682	c.2337G>A	c.(2335-2337)gtG>gtA	p.V779V	TNIK_uc003fhi.2_Silent_p.V724V|TNIK_uc003fhj.2_Silent_p.V750V|TNIK_uc003fhk.2_Silent_p.V779V|TNIK_uc003fhl.2_Silent_p.V695V|TNIK_uc003fhm.2_Silent_p.V724V|TNIK_uc003fhn.2_Silent_p.V750V|TNIK_uc003fho.2_Silent_p.V695V|MIR569_uc021xhh.1_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	779	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTCTGGTTTCACCTTCGCAG	0.478000														7			11		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766558	124766558	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124766558C>T	uc001qbg.3	-	2	549	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ROBO4_uc010sas.2_5'UTR|ROBO4_uc001qbh.2_Missense_Mutation_p.E27K|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	137	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R136L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGAAATCCTCCCGGAGGACT	0.622000														1			18		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:62423848G>A	uc003dll.2	-	27	4068	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_uc003dlj.1_Silent_p.F191F|CADPS_uc003dlk.1_Silent_p.F684F|CADPS_uc003dlm.2_Silent_p.F1197F|CADPS_uc003dln.2_Silent_p.F1157F|CADPS_uc021wzv.1_Silent_p.F1227F	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448000														27			18		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3445953	3445953	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3445953T>G	uc002fvr.2	-	5	828	c.506A>C	c.(505-507)aAg>aCg	p.K169T	TRPV3_uc010vrh.1_Missense_Mutation_p.K153T|TRPV3_uc010vri.1_Missense_Mutation_p.K124T|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.K169T|TRPV3_uc010vrj.1_Missense_Mutation_p.K153T|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.K153T|TRPV3_uc002fvu.3_Missense_Mutation_p.K169T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	169						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CAGGCAGGTCTTCCCCGTGTC	0.602000														27			10		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56033065	56033065	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56033065G>A	uc003pcs.3	-	5	1289	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R353C|COL21A1_uc003pcu.1_Missense_Mutation_p.R353C	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	353	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R353H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTAAGAGACGAATTTGGTGC	0.348000														10			4		0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179483632	179483632	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:179483632T>C	uc003fkh.3	+	18	2490	c.2409T>C	c.(2407-2409)tcT>tcC	p.S803S		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	803					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGGATGGATCTGGAAGTAAGT	0.458000														77			4		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873383	21873383	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21873383G>A	uc001war.2	-	14	3357	c.3292C>T	c.(3292-3294)Cca>Tca	p.P1098S	CHD8_uc001was.2_Missense_Mutation_p.P819S|CHD8_uc001wav.1_Missense_Mutation_p.P261S	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1098					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGAGATATGGGTGGTTGCAG	0.443000														9			16		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320887	128320887	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:128320887G>A	uc003kuy.3	+	2	939	c.543G>A	c.(541-543)ggG>ggA	p.G181G	SLC27A6_uc003kuz.3_Silent_p.G181G	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	181					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGTTTGGGGGATGAAAGATT	0.453000														8			7		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727288	71727288	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71727288C>T	uc001orl.1	-	14	1433	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	NUMA1_uc009ysw.1_5'UTR|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E421K|NUMA1_uc001orn.2_5'UTR|NUMA1_uc009ysx.1_Missense_Mutation_p.E421K|NUMA1_uc001oro.1_Missense_Mutation_p.E421K	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	421					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTGGCTGCCTCTTGCTTCAAG	0.532000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			62		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400119	89400119	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89400119G>A	uc010upo.1	+	11	4677	c.4303G>A	c.(4303-4305)Gga>Aga	p.G1435R	ACAN_uc010upp.1_Missense_Mutation_p.G1435R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1435					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTTCCTTCTGGAGAAGTTCT	0.542000														83			116		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100200661	100200661	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100200661G>A	uc003hur.2	-	7	1139	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	342					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCATCCAATGAAAACTTCTT	0.333000														66			27		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10729739	10729739	+	Missense_Mutation	SNP	T	G	G	rs113800455		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:10729739T>G	uc002czz.1	-	5	1195	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	375					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCCAGCAGCATGATGGTGTTC	0.642000														235			25		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247046	149247046	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149247046T>G	uc002twm.4	+	11	4143	c.3146T>G	c.(3145-3147)cTt>cGt	p.L1049R	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Missense_Mutation_p.L307R|MBD5_uc002twp.3_Missense_Mutation_p.L99R	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1049						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACACTACACTTCCACCTTTT	0.488000														46			11		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432177	10432177	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10432177C>T	uc010coi.3	-	26	3702	c.3574G>A	c.(3574-3576)Gaa>Aaa	p.E1192K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1192K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1192					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						GCTGTGGCTTCATGCTGTAGG	0.582000														8			143		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548827	50548827	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50548827A>G	uc002prn.3	+	4	1364	c.1127A>G	c.(1126-1128)gAg>gGg	p.E376G	ZNF473_uc002prm.3_Missense_Mutation_p.E376G|ZNF473_uc010ybo.2_Missense_Mutation_p.E364G	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	376	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTACCTCTGAGTGTCAGGAG	0.483000														88			10		0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69529122	69529122	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:69529122A>G	uc001xkp.3	-	7	1272	c.1053T>C	c.(1051-1053)tcT>tcC	p.S351S	DCAF5_uc001xkq.3_Silent_p.S350S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	351						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTTCTACACCAGAAGAGCAGA	0.408000														45			12		0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22355618	22355618	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22355618A>G	uc011kzi.2	+	3	917	c.477A>G	c.(475-477)aaA>aaG	p.K159K	PPP3CC_uc003xbr.2_Silent_p.K159K|PPP3CC_uc003xbs.3_Silent_p.K159K|PPP3CC_uc003xbt.3_Silent_p.K159K	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	159					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TCACCTTCAAACAGGAATGTA	0.333000														45			9		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435042	56435042	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56435042A>C	uc002iwf.3	-	7	4051	c.2095T>G	c.(2095-2097)Ttg>Gtg	p.L699V	RNF43_uc010wnv.2_Missense_Mutation_p.L658V|RNF43_uc002iwh.4_Missense_Mutation_p.L699V|RNF43_uc002iwg.4_Missense_Mutation_p.L699V|RNF43_uc010dcw.3_Missense_Mutation_p.L572V	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	699	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACAGATCAAGGGGTGTGCC	0.582000														108			40		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793406	24793406	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24793406C>T	uc001wow.3	-	16	2328	c.1909_splice	c.e16-1	p.R637_splice	ADCY4_uc010toh.2_Splice_Site_p.R323_splice|ADCY4_uc001wox.3_Splice_Site_p.R637_splice|ADCY4_uc001woy.3_Splice_Site_p.R637_splice	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	637					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGACACACCTCTGTGGAGGGA	0.632000														36			13		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112674890	112674890	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:112674890T>A	uc021reb.1	-	34	5297	c.4901A>T	c.(4900-4902)gAg>gTg	p.E1634V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTGCACAGCCTCTGTGGAGCC	0.557000														1			3		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449405	219449405	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219449405C>T	uc010zkh.2	+	3	391	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	RQCD1_uc002vih.1_Missense_Mutation_p.P131S|RQCD1_uc010zki.2_Missense_Mutation_p.P131S	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAAACACGTCCCTTTGAGTA	0.428000														139			40		0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141464686	141464686	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141464686C>T	uc003iik.3	+	7	814	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.	228	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GAAGTTTCATCTCTATAACCT	0.328000														30			25		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18529286	18529286	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:18529286C>T	uc002wra.2	+	15	2238	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	SEC23B_uc010zsb.2_Nonsense_Mutation_p.Q575*|SEC23B_uc002wrb.2_Nonsense_Mutation_p.Q593*|SEC23B_uc002wqz.2_Nonsense_Mutation_p.Q593*|SEC23B_uc002wrc.2_Nonsense_Mutation_p.Q593*	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	593					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCCATTTCTTCAAGTGTTTAA	0.423000														26			6		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079227	94079227	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94079227T>C	uc001ybv.1	+	24	3457	c.3374T>C	c.(3373-3375)cTg>cCg	p.L1125P	UNC79_uc001ybs.1_Missense_Mutation_p.L1103P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1280						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTCACCAGCTGATTACAGTG	0.507000														56			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976625	38976625	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38976625T>C	uc002oit.3	+	33	5460	c.5330T>C	c.(5329-5331)tTc>tCc	p.F1777S	RYR1_uc002oiu.3_Missense_Mutation_p.F1777S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1777	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGCATCATTTCTCGCCCCCC	0.677000														47			18		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033450	82033450	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:82033450C>T	uc002fgu.3	-	2	576	c.448G>A	c.(448-450)Gat>Aat	p.D150N		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	150					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAGTAGTGATCAGGGTGGAGG	0.507000														3			27		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088517	60088518	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:60088517_60088518GG>AA	uc002izo.3	-	8	1437_1438	c.1360_1361CC>TT	c.(1360-1362)cct>TTt	p.P454F	MED13_uc002izp.3_Missense_Mutation_p.P70F	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	454					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTGTGCTTAGGAAGTATTTGT	0.421000														21			5		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153480	19153480	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:19153480T>G	uc002kth.1	-	3	2259	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	442					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATCATGTAGCTTTGTCCCTAA	0.323000														81			6		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853581	23853581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23853581G>A	uc001uom.2	+	4	624	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	SGCG_uc009zzv.2_Missense_Mutation_p.E157K|SGCG_uc009zzw.2_Missense_Mutation_p.E157K	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	157					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATGAGAAGGAAGTTGTGGT	0.393000														20			5		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40509752	40509752	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40509752T>C	uc001zkx.4	+	20	2946	c.2734T>C	c.(2734-2736)Ttt>Ctt	p.F912L	PAK6_uc010bbl.3_5'UTR|PAK6_uc010bbm.3_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	912	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GATAGTGGACTTTTCCTACAG	0.433000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					122			17		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765586	77765586	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:77765586C>T	uc003yau.2	+	9	6816	c.6429C>T	c.(6427-6429)atC>atT	p.I2143I	ZFHX4_uc003yaw.1_Silent_p.I2098I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2098						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAATCCTGAGGGCTT	0.423000										HNSCC(33;0.089)				25			10		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43292654	43292654	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:43292654A>C	uc003jnr.4	-	9	1602	c.1395T>G	c.(1393-1395)acT>acG	p.T465T	HMGCS1_uc003jnp.4_Silent_p.T146T|HMGCS1_uc003jnq.4_Silent_p.T465T	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	465					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GCCGAGCGTAAGTTCTTCTGT	0.428000														65			12		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63991125	63991125	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:63991125C>T	uc003peh.3	-	4	365	c.331_splice	c.e4-1	p.E111_splice	LGSN_uc003pei.3_Splice_Site_p.E111_splice	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	111					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTCACTTTCTCCTAAAGAAGG	0.368000														35			15		0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40724014	40724014	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40724014T>G	uc001cfg.3	+	0	282	c.71T>G	c.(70-72)cTg>cGg	p.L24R		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	24						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GGGGCCGTGCTGCTCTTTTCC	0.637000														99			6		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178753573	178753573	+	Silent	SNP	C	T	T	rs140442248		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:178753573C>T	uc001glz.3	+	2	416	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RALGPS2_uc001gly.1_Silent_p.S26S|RALGPS2_uc010pnb.2_Silent_p.S26S	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	26					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCTCTGAATCCTTAAGTGACA	0.383000														40			15		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158091610	158091610	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:158091610T>G	uc003ipj.2	+	9	1426	c.1224T>G	c.(1222-1224)gtT>gtG	p.V408V	GLRB_uc021xtp.1_3'UTR|GLRB_uc021xtq.1_Silent_p.V408V	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	408					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.V408V(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GCAAAAAAGTTTGTACTTCTA	0.328000														17			4		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42315685	42315685	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:42315685C>T	uc002xlb.1	+	4	688	c.473C>T	c.(472-474)gCc>gTc	p.A158V	MYBL2_uc010zwj.1_Missense_Mutation_p.A134V	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	158	HTH myb-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AACCGCTGGGCCGAGATCGCC	0.617000														16			25		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99537226	99537226	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:99537226C>T	uc001vnt.2	-	21	2440	c.2385_splice	c.e21+1	p.R795_splice	DOCK9_uc001vnw.2_Splice_Site_p.R794_splice|DOCK9_uc021rlw.1_Splice_Site_p.R794_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R795_splice|DOCK9_uc010tis.1_Splice_Site_p.R794_splice|DOCK9_uc010tit.1_Splice_Site_p.R795_splice|DOCK9_uc010afu.1_Splice_Site_p.R641_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	795	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGACATACCCTGCCCATCCC	0.458000														9			9		0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18541718	18541718	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18541718C>T	uc002niy.3	+	4	660	c.347C>T	c.(346-348)tCc>tTc	p.S116F	SSBP4_uc010ebp.3_Missense_Mutation_p.S116F|SSBP4_uc002niz.3_Missense_Mutation_p.S116F	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	116						nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GCCGCAGGCTCCATGGCGGCT	0.667000														21			15		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802491	185802491	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185802491C>T	uc002uph.3	+	3	2962	c.2368C>T	c.(2368-2370)Cat>Tat	p.H790Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	790						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCGACAGAATCATTTACCAGA	0.388000														29			12		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438743	6438743	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6438743G>A	uc001qnu.3	-	9	1406	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.P260L|TNFRSF1A_uc010sey.2_Missense_Mutation_p.P136L|TNFRSF1A_uc010sez.2_Missense_Mutation_p.P260L|TNFRSF1A_uc009zek.3_Missense_Mutation_p.P325L	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	368	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCAGCGCAACGGGGGCACGTT	0.716000														19			11		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752385	36752385	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36752385A>C	uc001cae.4	+	3	778	c.554A>C	c.(553-555)aAg>aCg	p.K185T	THRAP3_uc001caf.4_Missense_Mutation_p.K185T|THRAP3_uc001cag.1_Missense_Mutation_p.K185T	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	185	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCTTCTAAGGATAGCCGG	0.532000			T	USP6	aneurysmal bone cysts									323			5		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158829578	158829578	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:158829578T>G	uc003woh.3	-	6	799	c.613A>C	c.(613-615)Agc>Cgc	p.S205R	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	205					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AAGACCAGGCTCAGCTTGCAG	0.602000														38			4		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825705	76825706	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76825705_76825706CC>TT	uc003ugb.3	-	1	1250_1251	c.1210_1211GG>AA	c.(1210-1212)ggg>AAg	p.G404K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	404	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCAGAAAATCCCATTACGGACA	0.465000														17			27		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265529	1265529	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1265529A>C	uc002cks.3	+	29	5428	c.5180A>C	c.(5179-5181)aAg>aCg	p.K1727T	CACNA1H_uc002ckt.3_Missense_Mutation_p.K1721T|CACNA1H_uc002cku.3_Missense_Mutation_p.K433T|CACNA1H_uc010brj.3_Missense_Mutation_p.K438T|CACNA1H_uc002ckv.3_Missense_Mutation_p.K427T	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1727					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)	CTAGTGCTGAAGCTGCTGAAG	0.716000														9			6		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217234482	217234482	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:217234482G>A	uc002vgb.3	-	0	2269	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	168						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCTGGCCCCTGGAAGCAGATG	0.557000														32			33		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960542	7960542	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7960542G>A	uc010rbi.2	-	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGAAGAGATGATTAATTTCA	0.418000														70			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070548	9070548	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9070548G>A	uc002mkp.3	-	2	17102	c.16898C>T	c.(16897-16899)tCc>tTc	p.S5633F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5635	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACATCAGGGAAAACCCAGA	0.527000														15			13		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403444	144403444	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144403444T>A	uc003yxz.3	-	7	1092	c.1073A>T	c.(1072-1074)cAa>cTa	p.Q358L	TOP1MT_uc011lkd.2_Missense_Mutation_p.Q260L|TOP1MT_uc011lke.2_Missense_Mutation_p.Q260L|TOP1MT_uc011lkf.2_Missense_Mutation_p.Q153L|TOP1MT_uc010mfd.1_Missense_Mutation_p.Q153L	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	358					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CACCACGTGTTGGCAGCCATC	0.652000														65			4		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770132	15770132	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15770132G>A	uc010xok.2	+	12	1550	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	CYP4F3_uc010xol.2_Silent_p.R500R|CYP4F3_uc002nbj.3_Silent_p.R500R|CYP4F3_uc010xom.2_Silent_p.R351R|CYP4F3_uc002nbk.3_Silent_p.R500R|CYP4F3_uc010xon.2_Silent_p.R210R	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	500					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCCCCGCAGGAAGCCGGAGC	0.662000														28			22		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772727	27772727	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:27772727C>T	uc001zbg.2	+	7	1268	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	338					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACCCTCAACTACTATTCCA	0.542000														3			6		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994844	11994844	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:11994844T>C	uc003wvc.1	-	0	1426	c.1426A>G	c.(1426-1428)Aaa>Gaa	p.K476E	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	476					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGATGGTTTTTCATCCCACAC	0.493000														98			13		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7980355	7980355	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7980355A>G	uc002gjy.1	-	8	1489	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	BC046191_uc010cnq.2_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	410	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGGCCAGGCAGAAGGCCTCA	0.632000										Multiple Myeloma(8;0.094)				35			10		0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141315328	141315328	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141315328A>C	uc003vwi.2	+	7	652	c.481A>C	c.(481-483)Agt>Cgt	p.S161R	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	161	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity	p.L160V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAGTAGTTTGAGTCATACCCT	0.433000														151			5		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1384026	1384026	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1384026G>A	uc002fsp.3	-	5	1001	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	MYO1C_uc002fsn.3_Missense_Mutation_p.P242S|MYO1C_uc002fso.3_Missense_Mutation_p.P226S|MYO1C_uc010vqj.1_Missense_Mutation_p.P226S|MYO1C_uc010vqk.1_Missense_Mutation_p.P237S	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	261	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TAGCTCTGGGGGTTCCGTTCC	0.632000														1			88		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78204194	78204194	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:78204194T>G	uc001ozi.3	-	6	1113	c.737A>C	c.(736-738)aAt>aCt	p.N246T	NARS2_uc010rsq.2_Missense_Mutation_p.N19T	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding	p.N246I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCTCTGAGAATTTTCAGCTCG	0.388000														61			21		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723677	142723677	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142723677G>A	uc003wcc.1	-	0	543	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGGACAGTTTGAGCAATTGCC	0.393000														96			22		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36464513	36464513	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36464513T>C	uc003omg.3	-	11	1830	c.1242A>G	c.(1240-1242)ccA>ccG	p.P414P	STK38_uc003omh.3_Silent_p.P414P|STK38_uc003omi.3_Silent_p.P414P	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	414	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATCAGATTCTGGAAACTCAT	0.383000														49			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196738409	196738409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196738409C>T	uc002utj.4	-	38	6397	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TACTGGATTTCGACCACCACC	0.274000														13			11		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26092606	26092606	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26092606G>A	uc002gzu.3	-	19	2647	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	795	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGTGTGGGGCCATCCACC	0.677000														65			7		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977848	70977848	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70977848G>A	uc002ezr.3	-	41	6684	c.6533C>T	c.(6532-6534)tCc>tTc	p.S2178F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2179										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGCTGgaggaaatctgttg	0.567000														2			4		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411466	126411466	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126411466G>A	uc003ifj.4	+	16	13489	c.13489G>A	c.(13489-13491)Gag>Aag	p.E4497K	FAT4_uc011cgp.2_Missense_Mutation_p.E2738K|FAT4_uc003ifi.1_Missense_Mutation_p.E1974K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4497					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGCCCTGAAGAGATCTCTCT	0.602000														60			20		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555867	125555867	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:125555867G>C	uc010flu.3	+	18	3551	c.3187G>C	c.(3187-3189)Gac>Cac	p.D1063H	CNTNAP5_uc002tno.3_Missense_Mutation_p.D1062H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1062	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.F1063V(1)		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)		TTCTTCTCAGGACTTCGTGGT	0.493000														20			6		0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42992732	42992732	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42992732A>C	uc003otp.1	+	1	148	c.140A>C	c.(139-141)aAc>aCc	p.N47T		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	47					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GGCACATCTAACATGTCATTT	0.463000														25			7		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906044	12906044	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:12906044C>T	uc004cvc.3	+	2	2556	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	806					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTGACTATTCCTTACCTGGCC	0.483000														0			47		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263739	52263739	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52263739T>C	uc003ddd.3	-	7	971	c.820A>G	c.(820-822)Agc>Ggc	p.S274G	TLR9_uc003ddb.3_Missense_Mutation_p.S78G|TLR9_uc003ddc.1_5'UTR	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTCTTGCAGCTGGAGTAGAGC	0.617000														68			6		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407529	46407529	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46407529T>C	uc001nct.1	-	0	579	c.579A>G	c.(577-579)ccA>ccG	p.P193P		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	193					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGGTCACTGCTGGGTTGGACA	0.592000														14			5		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312348	45312348	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45312348G>A	uc003bfn.3	-	3	527	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	PHF21B_uc011aqk.2_Missense_Mutation_p.P114S|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.P126S|PHF21B_uc011aqm.1_Missense_Mutation_p.P114S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	126							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGGCTGCCGGGCGCTGGCACA	0.697000														45			41		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801902	125801902	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:125801902G>A	uc001lhn.3	-	3	1682	c.948C>T	c.(946-948)ctC>ctT	p.L316L	CHST15_uc001lhm.3_Silent_p.L316L|CHST15_uc010que.2_Silent_p.L316L|CHST15_uc001lho.3_Silent_p.L316L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	316					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCAGGTCAAAGAGGTCCAGAT	0.512000														2			46		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232664	56232664	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56232664T>G	uc010wno.2	+	0	150	c.150T>G	c.(148-150)acT>acG	p.T50T	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCACAGTGACTTTTGACTGCC	0.473000														150			16		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945705	45945705	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45945705A>G	uc002zfe.1	-	7	1233	c.1167T>C	c.(1165-1167)gcT>gcC	p.A389A	TSPEAR_uc010gpv.1_Silent_p.A321A	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	389					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTTCAAAATTAGCCACTGCCA	0.498000														185			32		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49079202	49079202	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49079202G>A	uc004dnb.3	-	15	2276	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	CACNA1F_uc010nip.3_Silent_p.F727F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	738					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGAGAATGATGAAATAGATGC	0.517000														3			24		0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14139133	14139133	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14139133C>T	uc002mxw.1	+	0	117	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RLN3_uc010dzj.1_Silent_p.F39F	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	39						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GCCGAGAATTCATCCGAGCAG	0.657000														89			17		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819007	74819007	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:74819007C>T	uc001dge.2	+	11	1360	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	FPGT-TNNI3K_uc001dgc.2_Silent_p.V431V|FPGT-TNNI3K_uc001dgd.3_Silent_p.V431V|FPGT-TNNI3K_uc001dgf.2_Silent_p.V330V	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	330						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATCAGAATGTCATAAACATCA	0.368000														37			9		0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10792002	10792002	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:10792002C>T	uc021ylk.1	-	9	1504	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.E408K|MAK_uc021yll.1_Missense_Mutation_p.E408K|MAK_uc010jov.2_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	408					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCCAACTCTTCCCAGCTATCT	0.443000														39			42		0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145540343	145540343	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145540343A>G	uc003zbv.3	-	16	1609	c.1341T>C	c.(1339-1341)ttT>ttC	p.F447F		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	447					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCCCTGGAAAAAGCGGCCCA	0.602000														23			4		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944744	94944744	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:94944744A>T	uc003uns.3	-	3	357	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	PON1_uc011kih.2_Missense_Mutation_p.L87Q	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	87					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CAGGTCCATCAGAAGTATTTT	0.388000														45			4		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494166	45494166	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45494166C>T	uc002pai.3	+	10	1436	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	CLPTM1_uc010xxf.2_Missense_Mutation_p.S359F|CLPTM1_uc010xxg.2_Missense_Mutation_p.S447F|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	461					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAGGACAAGTCCACGTATATC	0.582000														25			19		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843482	28843482	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28843482G>A	uc002rmb.2	+	47	3443	c.3399G>A	c.(3397-3399)ggG>ggA	p.G1133G	PLB1_uc010ezj.2_Silent_p.G1122G|PLB1_uc002rme.2_Silent_p.G98G	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1133	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGGGGATGGGAACTTGGAGA	0.567000														4			6		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964188	111964188	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:111964188G>A	uc001eba.3	-	7	773	c.717_splice	c.e7+1	p.S239_splice	OVGP1_uc001eaz.3_Splice_Site_p.S201_splice|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	239					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTCCTTACCGAAGATTTGGG	0.473000														40			37		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072539	197072540	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197072539_197072540GG>AA	uc001gtu.3	-	17	6098_6099	c.5841_5842CC>TT	c.(5839-5844)ctccgt>ctTTgt	p.R1948C	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1948	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCGCATGACGGAGTTCAATAT	0.396000														106			88		0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591617	121591617	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121591617C>T	uc003een.3	+	4	817	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	EAF2_uc003eeo.3_Missense_Mutation_p.L110F	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	240	Necessary for transactivation activity.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAACAGTGGCCTTCTGATGAA	0.363000														27			29		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919732	52919732	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52919732C>T	uc002pzh.3	+	6	2053	c.1627C>T	c.(1627-1629)Cat>Tat	p.H543Y	ZNF528_uc002pzi.3_Missense_Mutation_p.H310Y	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAATAATTCATACTGGAGA	0.388000														33			49		0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212617725	212617725	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:212617725G>A	uc001hjd.3	+	2	340	c.283G>A	c.(283-285)Gac>Aac	p.D95N	NENF_uc010ptf.2_Non-coding_Transcript	NM_013349	NP_037481	Q9UMX5	NENF_HUMAN	Homo sapiens neudesin neurotrophic factor (NENF), transcript variant 1, mRNA.	95	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		GACGGGGAAGGACTCCACTAG	0.507000														24			33		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823892	74823892	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74823892T>C	uc021rwl.1	+	0	406	c.406T>C	c.(406-408)Tcc>Ccc	p.S136P	VRTN_uc001xpw.4_Missense_Mutation_p.S136P	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	136					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGTGCGCTACTCCCTATGCTC	0.627000														44			5		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581043	7581043	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7581043C>T	uc003mxp.1	+	22	4899	c.4620C>T	c.(4618-4620)atC>atT	p.I1540I	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1540	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502000														72			77		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43651027	43651027	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43651027G>A	uc021omk.1	+	5	1115	c.969_splice	c.e5+1	p.R323_splice	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Splice_Site_p.R312_splice|WDR65_uc001ciq.2_Splice_Site_p.R323_splice|WDR65_uc001cip.2_Splice_Site_p.R323_splice	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	323										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAAATCAGGGTAAGGCGGG	0.478000														62			30		0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15095521	15095521	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:15095521C>T	uc001rcq.1	-	5	645	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	181					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TGCTTGTCATCGTCGGTGAAG	0.567000														79			57		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095312	81095312	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81095312C>T	uc002fgc.4	-	3	901	c.642G>A	c.(640-642)ctG>ctA	p.L214L	C16orf46_uc010chf.3_Silent_p.L214L|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	214								p.P213P(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GTGAAGCCTTCAGGGGAGGCA	0.547000														9			90		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050840	110050840	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110050840A>T	uc021org.1	-	0	695	c.695T>A	c.(694-696)cTg>cAg	p.L232Q	AMIGO1_uc001dxx.4_Missense_Mutation_p.L232Q	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	232	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTGTGAAAACAGCTGGTAGAG	0.517000														79			15		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746305	111746305	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:111746305G>A	uc001tsa.2	+	13	1387	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	411						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTTCTGGAGAAGCCCAGCC	0.612000														0			16		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137533959	137533959	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137533959G>A	uc003lcl.3	-	8	972	c.941C>T	c.(940-942)tCg>tTg	p.S314L		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	314					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTCAACTCCGATTTCATGCT	0.328000														38			38		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296655	47296655	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47296655T>C	uc001ner.1	+	2	795	c.604T>C	c.(604-606)Tgc>Cgc	p.C202R	MADD_uc001neq.2_Missense_Mutation_p.C202R|MADD_uc001nev.1_Missense_Mutation_p.C202R|MADD_uc001nes.1_Missense_Mutation_p.C202R|MADD_uc001net.1_Missense_Mutation_p.C202R|MADD_uc009yln.1_Missense_Mutation_p.C202R|MADD_uc001neu.1_Missense_Mutation_p.C202R|MADD_uc001nez.2_Missense_Mutation_p.C202R|MADD_uc001new.2_Missense_Mutation_p.C202R|MADD_uc001nex.2_Missense_Mutation_p.C202R	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	202	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGGTGGACTGCTGTAGTGA	0.537000														76			13		0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298758	125298758	+	Silent	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:125298758A>T	uc003eic.3	-	2	1097	c.360T>A	c.(358-360)tcT>tcA	p.S120S		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	120	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGAAGGTGTGAGAATCCTCAT	0.403000														139			22		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808393	4808393	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:4808393A>C	uc003bqc.3	+	44	6030	c.5680_splice	c.e44+1	p.A1894_splice	ITPR1_uc021wsi.1_Splice_Site_p.A1861_splice|ITPR1_uc021wsj.1_Splice_Site_p.A1846_splice|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1909					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CACGGAAAAAAGGTAAATGTT	0.418000														18			6		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98548574	98548574	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:98548574C>T	uc003upp.3	+	37	5598	c.5389C>T	c.(5389-5391)Ccc>Tcc	p.P1797S	TRRAP_uc011kis.2_Missense_Mutation_p.P1779S|TRRAP_uc003upr.3_Missense_Mutation_p.P1496S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1797					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGGGACCTCCCAATCCAGA	0.438000														138			88		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744100	140744100	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140744100C>T	uc003lju.2	+	0	203	c.203C>T	c.(202-204)tCc>tTc	p.S68F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.S68F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	68	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATCGTCTCCAGAGGTAGG	0.652000														36			28		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44693745	44693745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44693745G>A	uc002xrd.3	-	4	1280	c.752C>T	c.(751-753)cCt>cTt	p.P251L	NCOA5_uc002xrc.3_Missense_Mutation_p.P139L|NCOA5_uc002xre.3_Missense_Mutation_p.P251L	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AATAGCAAAAGGAGAACCTCC	0.517000														151			49		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620000	56620000	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56620000A>C	uc002iwq.2	-	0	1734	c.1548T>G	c.(1546-1548)acT>acG	p.T516T	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	516										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAAGAAAGCAGTAAACCTTT	0.522000														156			17		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130764114	130764114	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130764114G>A	uc003ysr.3	-	8	1792	c.910C>T	c.(910-912)Cca>Tca	p.P304S		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	304						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCACCTACTGGGAGGATGTGA	0.502000														140			113		0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267940	124267940	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:124267940T>G	uc003yqe.3	-	2	857	c.247A>C	c.(247-249)Aat>Cat	p.N83H	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.N83H|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.N83H|ZHX1_uc022bak.1_Missense_Mutation_p.N83H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	83					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTAAACATATTTAGATCTGGA	0.333000														33			7		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282220	130282221	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130282220_130282221GG>AA	uc010htl.3	+	1	404_405	c.373_374GG>AA	c.(373-375)ggg>AAg	p.G125K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	125	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCGCAAATGGGAGAGACAAG	0.505000														3			47		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35457682	35457682	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:35457682C>T	uc001mwf.3	-	10	1195	c.1152_splice	c.e10-1	p.R384_splice	PAMR1_uc001mwg.3_Splice_Site_p.R367_splice|PAMR1_uc010rew.2_Splice_Site_p.R256_splice|PAMR1_uc010rex.2_Splice_Site_p.R327_splice	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	367					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AATGGTGTCTCCCTGGGTCAG	0.512000														41			28		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432449	140432449	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140432449A>C	uc003lik.1	+	0	1471	c.1394A>C	c.(1393-1395)aAc>aCc	p.N465T		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	465	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N465H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAAAACAACAGTCCTGCG	0.413000														26			10		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527138	7527138	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7527138C>T	uc010sge.2	-	12	3365	c.3339G>A	c.(3337-3339)ctG>ctA	p.L1113L	CD163L1_uc001qsy.3_Silent_p.L1103L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1103	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGTGCAGTTCAGGTCATCCA	0.627000														44			45		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138943251	138943251	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138943251C>T	uc011kqr.2	+	3	681	c.681C>T	c.(679-681)ccC>ccT	p.P227P	BC045656_uc022amp.1_Non-coding_Transcript|UBN2_uc003vuv.3_5'UTR	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	227										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATTAGTTCCCGCTTCTCTAA	0.353000														28			23		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332191	123332191	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123332191C>T	uc003pzi.1	+	2	1320	c.451C>T	c.(451-453)Cct>Tct	p.P151S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	151	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GATTGAAGATCCTGAGCTTCA	0.408000														6			32		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7269834	7269834	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7269834G>A	uc009xio.2	-	9	1277	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	SFMBT2_uc001ijn.2_Missense_Mutation_p.P396S|SFMBT2_uc010qay.2_Missense_Mutation_p.P396S	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	396					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AAGCAGAAGGGAGGGGCTTCC	0.418000														38			41		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869456	206869456	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206869456A>G	uc002vaz.4	-	10	3125	c.2720T>C	c.(2719-2721)cTc>cCc	p.L907P		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	639					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ATCTGCGCCGAGAAGGTTGCT	0.577000														38			6		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104216268	104216268	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104216268G>A	uc001yof.1	-	7	1115	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	PPP1R13B_uc001yog.1_Missense_Mutation_p.R145C	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	278	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGTTGGTTACGAATCTACAAA	0.358000														32			19		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92900560	92900560	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92900560T>G	uc003umo.3	+	9	816	c.688T>G	c.(688-690)Ttg>Gtg	p.L230V	CCDC132_uc003ump.3_Missense_Mutation_p.L200V|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.L230V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	230										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAAGATACTTTGGAACAGAT	0.289000														98			11		0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30219326	30219326	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30219326A>G	uc002hgr.3	-	5	460	c.377T>C	c.(376-378)cTt>cCt	p.L126P	UTP6_uc010wbw.1_Missense_Mutation_p.L126P	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	126					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TACCTTGCTAAGTCGAGTTTT	0.343000														20			11		0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897116	24897116	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24897116G>A	uc001wpg.4	-	2	968	c.497C>T	c.(496-498)aCc>aTc	p.T166I	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	166	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CACAGAGCTGGTGGCTGCCTC	0.607000														54			34		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160826666	160826666	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160826666C>T	uc002ube.2	-	17	2865	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E885K|PLA2R1_uc002ubf.3_Missense_Mutation_p.E885K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	885	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.D884D(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACCGAAATTCATCATTGGCT	0.308000														8			31		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322117	152322117	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152322117A>G	uc002txm.3	+	29	6244	c.6083A>G	c.(6082-6084)gAg>gGg	p.E2028G	RIF1_uc002txn.3_Missense_Mutation_p.E2028G|RIF1_uc002txl.3_Missense_Mutation_p.E2028G|RIF1_uc002txo.3_Missense_Mutation_p.E2028G|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2028	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATCGGCGAGGCAATGGCT	0.418000														20			4		0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33255176	33255176	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33255176T>G	uc003ods.3	-	7	1192	c.835A>C	c.(835-837)Aca>Cca	p.T279P	WDR46_uc011dra.2_Missense_Mutation_p.T225P|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc021ywk.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	279										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCAAGCCGTGTTACTCGGTCA	0.567000														51			3		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41553271	41553271	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:41553271T>C	uc003azl.4	+	17	3755	c.3360T>C	c.(3358-3360)gaT>gaC	p.D1120D		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1120	Bromo.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.D1120Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGTCGATGATATTTGGCTTA	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					45			3		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5528910	5528910	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5528910C>T	uc021qcw.1	-	0	1879	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.G627S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	627	UBA.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAAAGCCCATGGACCGC	0.537000														48			31		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17443708	17443708	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:17443708T>G	uc002zlw.3	-	9	1748	c.1640A>C	c.(1639-1641)gAg>gCg	p.E547A		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	547										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTGGGTCTTCTCCAGATCCAC	0.597000														39			13		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001815	177001815	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:177001815C>T	uc001glc.3	-	2	854	c.642G>A	c.(640-642)cgG>cgA	p.R214R	ASTN1_uc001glb.1_Silent_p.R214R|ASTN1_uc001gld.1_Silent_p.R214R|ASTN1_uc009wwx.1_Silent_p.R214R|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	214					cell migration|neuron cell-cell adhesion	integral to membrane		p.R214Q(1)|p.R214R(1)		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						GCAGGCTCTCCCGTCCGTGCC	0.622000														38			35		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32768572	32768572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32768572C>T	uc010ezu.3	+	61	12690	c.12556C>T	c.(12556-12558)Cga>Tga	p.R4186*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4186					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGCCTTCTTCGATTGGTATT	0.413000														44			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7704976	7704976	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7704976T>G	uc002giu.1	+	55	8794	c.8780T>G	c.(8779-8781)cTc>cGc	p.L2927R	DNAH2_uc010cnm.1_5'Flank	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2927	AAA 4 (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)				GAGGCCCTGCTCGAGGTGGCT	0.592000														158			9		0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52723169	52723169	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52723169A>G	uc003dfd.3	+	5	661	c.488A>G	c.(487-489)gAg>gGg	p.E163G	GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.E151G|GNL3_uc003dff.3_Missense_Mutation_p.E151G|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	163					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CAGGTAGAAGAGGCCATTGTC	0.443000														84			27		0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87797912	87797912	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:87797912C>T	uc001dmi.3	+	1	994	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	LMO4_uc001dmj.3_Missense_Mutation_p.L72F	NM_006769	NP_006760	P61968	LMO4_HUMAN	Homo sapiens LIM domain only 4 (LMO4), mRNA.	72	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TGGCATGATCCTTTGCAGAAA	0.532000														19			14		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651957	11651957	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11651957C>T	uc002msc.1	+	1	294	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	44	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GGTGACAGGCCGTCGCATCGG	0.607000														22			7		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67105498	67105498	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:67105498A>C	uc001dcr.3	+	4	427	c.210A>C	c.(208-210)gaA>gaC	p.E70D		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	70					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTATGCGGAAATTGATTGGG	0.299000														49			8		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153532	139153532	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139153532G>A	uc003yuy.3	-	16	3870	c.3699C>T	c.(3697-3699)ttC>ttT	p.F1233F	FAM135B_uc003yux.3_Silent_p.F1134F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1233								p.R1232W(1)|p.R1232R(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTAATACCGGAACCGGGGCC	0.532000										HNSCC(54;0.14)				67			28		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2538422	2538422	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:2538422C>T	uc001ajy.2	-	6	836	c.622G>A	c.(622-624)Gag>Aag	p.E208K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	208					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTACGGTCTCGTTCCACCTG	0.642000														52			79		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111901052	111901052	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:111901052A>G	uc003dyu.3	-	20	2799	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	SLC9C1_uc011bhu.2_Silent_p.P122P|SLC9C1_uc010hqc.3_Silent_p.P811P	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	859					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CAACAGTAAGAGGCCTGATAA	0.308000														39			4		0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183961734	183961734	+	Silent	SNP	G	A	A	rs142901178	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183961734G>A	uc003fne.2	-	5	808	c.777C>T	c.(775-777)tcC>tcT	p.S259S	ALG3_uc011brc.1_Silent_p.S224S|ALG3_uc011brd.1_Silent_p.S203S|ALG3_uc011bre.1_Silent_p.S211S	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	259					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAAGGAGCGGGACAGGTAGC	0.612000														39			70		0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31701616	31701617	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31701616_31701617GG>AA	uc003nwr.3	-	2	535_536	c.271_272CC>TT	c.(271-273)ccc>TTc	p.P91F		NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	91					signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CCTATACCTGGGAGGGCACAGC	0.554000														70			61		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49237773	49237773	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49237773T>G	uc001rsm.3	-	2	361	c.270A>C	c.(268-270)cgA>cgC	p.R90R		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	90	Arg-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R90R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGTCTCGATCTCGGTCCTTCT	0.493000														275			192		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004861	41004861	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41004861T>G	uc002ibv.3	+	0	1661	c.1501T>G	c.(1501-1503)Ttt>Gtt	p.F501V		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	501					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGCATTCCTCTTTGGTGCTAC	0.552000														54			7		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120816119	120816119	+	Splice_Site	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:120816119T>G	uc003you.3	-	5	830	c.560_splice	c.e5+1	p.R187_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	187					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATAATCTACCTTGTAGAATTT	0.328000														103			24		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748520	62748520	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62748520G>A	uc001nwk.3	-	5	1307	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SLC22A6_uc001nwl.3_Missense_Mutation_p.S325L|SLC22A6_uc001nwj.3_Missense_Mutation_p.S325L|SLC22A6_uc001nwm.3_Missense_Mutation_p.S325L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	325					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCCATGGCCGATGCCTGGCC	0.642000														24			22		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78710956	78710956	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:78710956G>A	uc004akc.2	+	7	1583	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	PCSK5_uc004ajy.2_Missense_Mutation_p.E349K|PCSK5_uc004ajz.3_Missense_Mutation_p.E349K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	349	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGGTACCTGGAAGAGTGTTC	0.498000														33			17		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1755366	1755366	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:1755366C>T	uc004cqd.3	+	8	1039	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	ASMT_uc010ncy.3_Silent_p.L275L|ASMT_uc004cqe.3_Silent_p.L200L	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	247					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAAGCTGATCTGTACATCCT	0.542000														101			96		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516960	158516960	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158516960A>G	uc003qqx.2	+	26	4161	c.4055A>G	c.(4054-4056)aAc>aGc	p.N1352S	SYNJ2_uc003qqy.2_Missense_Mutation_p.N1115S|SYNJ2_uc003qqz.2_Missense_Mutation_p.N969S|SYNJ2_uc003qra.2_Missense_Mutation_p.N695S	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1352							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			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)		CTGCAGAGCAACAGCCAGCTT	0.647000														20			9		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60769742	60769742	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:60769742C>T	uc002jad.3	+	29	4772	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F	MRC2_uc002jae.3_Missense_Mutation_p.S528F|MRC2_uc002jaf.3_Missense_Mutation_p.S323F	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1457					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGCAGCAGCTCCAGCCCCACC	0.642000														6			3		0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649358	154649358	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:154649358C>T	uc003int.3	-	4	774	c.401_splice	c.e4+1	p.R134_splice	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	134						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GGAATACATACCGTGGTGTCC	0.468000														24			8		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41272555	41272555	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:41272555G>A	uc001zni.3	-	35	4750	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1513	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACTCAAAGGAGAAGAGGCG	0.557000														5			24		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110755	72110755	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:72110755C>T	uc002fby.3	+	4	852	c.822C>T	c.(820-822)ccC>ccT	p.P274P	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	274	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGGTGCAGCCCATACTGAACG	0.552000														2			48		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037099	47037099	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47037099C>T	uc003cqp.3	+	12	2053	c.1874C>T	c.(1873-1875)cCa>cTa	p.P625L	NBEAL2_uc003cqq.1_Missense_Mutation_p.P591L|NBEAL2_uc010hjm.2_Missense_Mutation_p.P186L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	625							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCACCCGACCACTCCAGCGA	0.627000														30			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440323	179440323	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179440323C>T	uc021vsy.1	-	274	63057	c.62832G>A	c.(62830-62832)gaG>gaA	p.E20944E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E14639E|TTN_uc021vta.1_Silent_p.E14572E|TTN_uc021vtb.1_Silent_p.E14447E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21871	Ig-like 112.						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)			CATATTCATTCTCTGCCATCA	0.433000														65			106		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88055840	88055840	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88055840A>C	uc011ccz.2	+	19	3804	c.3529A>C	c.(3529-3531)Aat>Cat	p.N1177H	AFF1_uc003hqj.4_Missense_Mutation_p.N1169H|AFF1_uc003hqk.4_Missense_Mutation_p.N1170H|AFF1_uc011cda.2_Missense_Mutation_p.N808H	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	1169						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACGAGGAAGAATAAAGGTAA	0.418000														50			19		0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254197	39254197	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39254197G>A	uc010wfo.2	-	0	179	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	47	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCAGCAGCAGGACACACTGTA	0.662000														50			19		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475368	5475368	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5475368C>T	uc010qzf.2	+	0	731	c.650C>T	c.(649-651)tCc>tTc	p.S217F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTCCTCTCCTATGTGCTC	0.468000														72			60		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133869	57133869	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57133869C>T	uc002qnm.4	+	2	1452	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	ZNF71_uc021vcg.1_Missense_Mutation_p.T405I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATCGTGCACACCGGGGAGAAG	0.642000														42			65		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521638	24521638	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24521638T>C	uc002rfe.2	-	12	1648	c.1390A>G	c.(1390-1392)Aga>Gga	p.R464G	ITSN2_uc002rff.2_Missense_Mutation_p.R464G|ITSN2_uc002rfg.3_Missense_Mutation_p.R464G|ITSN2_uc010eyd.2_Missense_Mutation_p.R489G	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	464					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCGAATTCTCTCCCATTCT	0.348000														59			22		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19924167	19924167	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:19924167G>A	uc003cbl.4	-	11	2399	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	EFHB_uc003cbm.3_Missense_Mutation_p.R605C	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	735					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGATGCGACGAATTCGGGGA	0.418000														11			11		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602595	5602595	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5602595C>T	uc010qzi.2	+	0	489	c.489C>T	c.(487-489)atC>atT	p.I163I	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGGAAGATCGTCACTGCCG	0.512000														91			97		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823866	97823866	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:97823866A>G	uc003upd.2	+	10	4382	c.4089A>G	c.(4087-4089)acA>acG	p.T1363T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1363					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGATGTCACAGTCTACCTGT	0.473000														51			16		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368759	111368759	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111368759G>A	uc003vfy.3	-	53	5876	c.5607C>T	c.(5605-5607)ttC>ttT	p.F1869F	DOCK4_uc011kml.2_Silent_p.F705F|DOCK4_uc011kmm.2_Silent_p.F693F|DOCK4_uc003vfw.3_Silent_p.F1236F|DOCK4_uc003vfx.3_Silent_p.F1824F|DOCK4_uc003vfv.3_Silent_p.F137F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1824					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAGAGGGGGTGAAAGACTGCA	0.592000														12			11		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345889	24345889	+	RNA	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:24345889C>T	uc010edb.1	-	0		c.361G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		GAGTGATTTTCATGTCATTGA	0.448000														36			16		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100691887	100691888	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:100691887_100691888CC>TT	uc001thn.3	+	3	464_465	c.414_415CC>TT	c.(412-417)tcccct>tcTTct	p.P139S	SCYL2_uc009ztw.1_5'UTR|SCYL2_uc001thm.1_Missense_Mutation_p.P139S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	139	Protein kinase.			PISPDIK -> LMSGDIG (in Ref. 4; BAA92598).	endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATCTACCTTCCCCTATATCTCC	0.327000														0			12		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45959103	45959103	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45959103C>T	uc010gzz.3	+	15	2270	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	FBLN1_uc003bgh.3_Missense_Mutation_p.S670F|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	689					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACCGTCAGCTCCTTTGTGGCC	0.622000														52			51		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887368	7887368	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:7887368C>T	uc001aop.3	+	16	2603	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	PER3_uc009vmg.1_Silent_p.F793F|PER3_uc009vmh.1_Silent_p.F786F|PER3_uc001aoo.3_Silent_p.F785F|PER3_uc010nzw.2_Silent_p.F474F	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	785	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGACCTTCCCACCTGCCG	0.697000														40			76		0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300064	112300064	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:112300064T>A	uc003dze.3	+	5	1345	c.1100T>A	c.(1099-1101)cTt>cAt	p.L367H		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	367						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCATCAGTCCTTCTCTCTATA	0.468000														24			28		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963228	196963228	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196963228C>T	uc001gts.4	+	3	577	c.449C>T	c.(448-450)cCa>cTa	p.P150L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	150	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGTCATGTTCCAATTTTAGAA	0.299000														33			37		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965357	88965357	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:88965357G>A	uc011khi.2	+	3	3599	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1021						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCAGACACTGATTGTGATAA	0.348000										HNSCC(36;0.09)				42			13		0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78081963	78081963	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:78081963T>C	uc003hkq.4	+	3	669	c.366T>C	c.(364-366)acT>acC	p.T122T	CCNG2_uc003hkn.4_Silent_p.T122T|CCNG2_uc011ccc.1_Silent_p.T122T|CCNG2_uc003hkp.4_Silent_p.T122T	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	122					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCATCCACTCATGATGTGA	0.358000														73			7		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46944031	46944031	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46944031C>T	uc003cqm.3	+	13	1430	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	PTH1R_uc021wxg.1_Silent_p.S409S	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	409						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGCTCAAATCCACGCTGGTGC	0.612000														13			5		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64331794	64331794	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64331794C>T	uc001oai.3	+	4	1210	c.836C>T	c.(835-837)tCc>tTc	p.S279F	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Missense_Mutation_p.S279F|SLC22A11_uc001oak.1_Missense_Mutation_p.S108F	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	279					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGCCAGAATCCGCCCGGTGG	0.617000														32			19		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964660	3964660	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3964660T>C	uc002lzc.1	-	1	486	c.392A>G	c.(391-393)cAc>cGc	p.H131R	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.H131R	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	131	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTTAGAGTGCAGGTAGTG	0.652000														204			8		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863081	23863081	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23863081C>T	uc001wjv.3	-	21	2793	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	908					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATCAGCTGGTCGCAGCGCTCC	0.498000														47			32		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725096	4725096	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4725096T>G	uc002fzc.3	+	23	2597	c.2471T>G	c.(2470-2472)cTt>cGt	p.L824R	PLD2_uc002fzd.3_Missense_Mutation_p.L813R	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	824					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGTGTGATTCTTGGAGCAAAT	0.478000														138			9		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805557	35805557	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35805557A>C	uc003zyd.3	+	12	1937	c.1937A>C	c.(1936-1938)aAg>aCg	p.K646T	NPR2_uc010mlb.3_Missense_Mutation_p.K622T	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	646	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGGAGTCTCAAGTCCTCCAAC	0.488000														56			18		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640663	145640663	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145640663G>A	uc003zcq.3	-	2	715	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Silent_p.F180F	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	205						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAAAGTCCACGAAGTACTGAG	0.697000														53			27		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46896636	46896636	+	Missense_Mutation	SNP	G	A	A	rs150681693	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46896636G>A	uc001ndn.4	-	27	4187	c.3944C>T	c.(3943-3945)tCg>tTg	p.S1315L		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1315					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCCATTTCTCGAGCCGCACTT	0.542000														17			19		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201472	132201472	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132201472A>G	uc002tst.2	-	0	996	c.530T>C	c.(529-531)cTt>cCt	p.L177P						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GACGGGGCCAAGGAAAGTGTC	0.567000														37			13		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106979	186106979	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186106979G>A	uc001grq.1	+	88	14028	c.13799G>A	c.(13798-13800)aGg>aAg	p.R4600K	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R169K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4600	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGCACAAGGAGCTGTGGA	0.468000														66			40		0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23421823	23421823	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23421823T>A	uc001whw.3	-	2	374	c.125A>T	c.(124-126)aAg>aTg	p.K42M	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Missense_Mutation_p.K42M|HAUS4_uc001whu.3_Missense_Mutation_p.K42M|HAUS4_uc001whv.3_Intron|HAUS4_uc001whq.3_Missense_Mutation_p.K42M	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	42					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CAGGAGAAGCTTGCTGAAGTA	0.468000														58			22		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366133	15366133	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15366133A>C	uc002nar.3	-	9	2244	c.2022T>G	c.(2020-2022)tgT>tgG	p.C674W	BRD4_uc002nas.3_Missense_Mutation_p.C674W|BRD4_uc002nat.3_Missense_Mutation_p.C674W	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	674					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTTCCGCAAACAGGAGGTGA	0.557000			T	C15orf55	lethal midline carcinoma of young people									43			12		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587754	36587754	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36587754C>T	uc003cgh.1	+	10	1221	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	STAC_uc011aya.1_Silent_p.I333I	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	394					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAGGCCTCATCCCCCTTGATG	0.458000														20			40		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47501479	47501479	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:47501479A>T	uc003oyw.3	+	2	763	c.307A>T	c.(307-309)Aac>Tac	p.N103Y		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	103	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACAAACCAAAAACATTAAGAA	0.348000														25			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948257	89948257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89948257G>A	uc003kju.3	+	18	3607	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1171	Calx-beta 9.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTTCTATGAAACTTCAGG	0.388000														25			18		0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380330	204380330	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204380330G>A	uc001hav.4	-	0	615	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	70					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCGGCGCAAGGAGCTGGGAGA	0.567000														64			68		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243652	41243652	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41243652T>A	uc002icq.3	-	9	4128	c.3896A>T	c.(3895-3897)cAg>cTg	p.Q1299L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.Q1228L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.Q1252L|BRCA1_uc002ict.3_Missense_Mutation_p.Q1299L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.Q1299L|BRCA1_uc002ide.1_Missense_Mutation_p.Q1130L|BRCA1_uc010cyy.1_Missense_Mutation_p.Q1299L|BRCA1_uc010whs.1_Missense_Mutation_p.Q1299L|BRCA1_uc010cyz.2_Missense_Mutation_p.Q1252L|BRCA1_uc010cza.2_Missense_Mutation_p.Q1273L|BRCA1_uc010wht.1_Missense_Mutation_p.Q1003L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1299					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCACTGCACTGTGAAGAAAA	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				102			9		0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968406	76968406	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76968406T>G	uc002jwh.3	-	5	1189	c.1010A>C	c.(1009-1011)gAg>gCg	p.E337A	LGALS3BP_uc002jwi.3_Missense_Mutation_p.E143A	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	337	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.H336H(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCCACCTCCTCATGGGAGGC	0.642000														50			23		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076963	41076963	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:41076963C>T	uc002xkg.3	-	8	1641	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	PTPRT_uc010ggj.3_Missense_Mutation_p.G486E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	486	Fibronectin type-III 3.				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)				AGGAACAGCTCCTGGAACTAC	0.488000														88			28		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717433	222717433	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:222717433G>A	uc001hnh.1	-	1	478	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	140					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGTTAGAATGGAAGGCAGAGC	0.607000														114			83		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20028411	20028411	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20028411C>T	uc002wrs.3	-	5	1135	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	CRNKL1_uc002wrt.1_Missense_Mutation_p.R356Q	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	368					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAGGATATATCGCTCATAAAT	0.507000														52			9		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911653	107911653	+	Missense_Mutation	SNP	C	T	T	rs104886393		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:107911653C>T	uc022ccg.1	+	40	3911	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	COL4A5_uc004enz.1_Missense_Mutation_p.P1237S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1237	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCAGGGTCCCCCAGGCCCTCC	0.602000									Alport syndrome with Diffuse Leiomyomatosis					0			22		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726145	168726145	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168726145G>A	uc021vsc.1	+	0	596	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	B3GALT1_uc002udz.1_Missense_Mutation_p.R199Q	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	199					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCAAGCCACGAAGAAGGTAT	0.403000														28			6		0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151664960	151664960	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151664960C>T	uc001eyn.1	+	8	1305	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	SNX27_uc001eyo.3_Missense_Mutation_p.P337L|SNX27_uc001eyp.3_Missense_Mutation_p.P244L	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	430					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCATCTTTCCCCACTGTGCC	0.443000														40			24		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53226261	53226261	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53226261C>T	uc003dgl.3	+	18	2363	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	PRKCD_uc003dgm.3_Silent_p.F670F	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	670	AGC-kinase C-terminal.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACCCCAAATTCGAGCACCTCC	0.582000														31			60		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090640	115090640	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:115090640A>C	uc001vuv.3	+	2	1655	c.1323A>C	c.(1321-1323)aaA>aaC	p.K441N	CHAMP1_uc010tko.2_Missense_Mutation_p.K441N|CHAMP1_uc010ahb.3_Missense_Mutation_p.K441N|CHAMP1_uc021rmx.1_Missense_Mutation_p.K441N	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	441	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGCTCAGAAAACCCTCAGGGT	0.537000														139			12		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048771	143048771	+	Nonsense_Mutation	SNP	C	T	T	rs55960271		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143048771C>T	uc003wcr.1	+	22	2767	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*	CLCN1_uc011ktc.1_Nonsense_Mutation_p.R506*	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	894					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACTTCAACTCGAAAGAGTAC	0.607000														43			16		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874636	35874636	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35874636G>A	uc003jjs.3	+	5	881	c.792G>A	c.(790-792)tgG>tgA	p.W264*	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	264					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTGTGTTATGGAAAAAAAGGT	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							55			15		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508680	106508680	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:106508680A>C	uc003vdv.4	+	1	759	c.674A>C	c.(673-675)cAc>cCc	p.H225P	PIK3CG_uc003vdu.3_Missense_Mutation_p.H225P|PIK3CG_uc003vdw.3_Missense_Mutation_p.H225P	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	225					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCGTCATTCACCGCAGCACC	0.577000														112			19		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718616	25718616	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:25718616C>T	uc003xes.2	-	12	1556	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	431					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCTGGCTGCCATAGGAGTTG	0.483000														72			58		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000														23			16		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949457	38949457	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38949457C>T	uc021wvy.1	-	9	1655	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	486					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGCAATCTTCATCAGAATCT	0.393000														12			26		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74413908	74413908	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:74413908G>A	uc001ovh.3	-	8	1304	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	CHRDL2_uc001ovg.3_Silent_p.L235L|CHRDL2_uc001ovi.3_Silent_p.L351L|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Silent_p.L286L	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	351					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AAGCGACGCAGGTTGTCTGGG	0.602000											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			61		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149408	41149408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41149408G>A	uc003jmk.2	-	16	2768	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	C6_uc003jml.1_Missense_Mutation_p.S853L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	853	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGTTGGATGAAAGTCTTGT	0.423000														233			56		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068427	57068427	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57068427G>A	uc001njr.3	-	8	5372	c.5060C>T	c.(5059-5061)tCg>tTg	p.S1687L	TNKS1BP1_uc001njq.3_Missense_Mutation_p.S260L|TNKS1BP1_uc001njs.3_Missense_Mutation_p.S1687L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1687	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCAGGATTTCGAACGCTGGAC	0.607000														71			44		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123182166	123182166	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123182166G>A	uc004bkf.3	-	26	4258	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L	CDK5RAP2_uc010mvi.3_Silent_p.L368L|CDK5RAP2_uc004bke.3_Silent_p.L644L|CDK5RAP2_uc004bkg.3_Silent_p.L1359L|CDK5RAP2_uc011lxw.2_Silent_p.L624L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.L624L|CDK5RAP2_uc011lya.2_Silent_p.L624L|CDK5RAP2_uc004bkh.1_Silent_p.L1129L|CDK5RAP2_uc004bki.3_Silent_p.L1126L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1359					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATAATCAGAGAGCGCATGAG	0.408000														32			29		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115953	26115953	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26115953G>A	uc002gzu.3	-	3	464	c.200C>T	c.(199-201)tCt>tTt	p.S67F	NOS2_uc010crh.1_Missense_Mutation_p.S67F|NOS2_uc010wab.1_Missense_Mutation_p.S67F	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	67					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.K66M(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGATTCTGGAGACTTCTGCAA	0.537000														95			71		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186948	61186948	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:61186948G>A	uc001xfc.3	-	1	1139	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	SIX4_uc010app.1_Missense_Mutation_p.S352L	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	360						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAAGACAGGTGAAGTACTTGC	0.398000														31			24		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031460	79031460	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79031460A>C	uc003kgc.3	+	1	6944	c.6872A>C	c.(6871-6873)aAa>aCa	p.K2291T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2291						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATTATGGAAAAAAAGAAATC	0.343000														27			25		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442573	10442573	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10442573G>A	uc010coi.3	-	13	1493	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.P455P|MYH2_uc010coj.3_Silent_p.P455P	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	455	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						AGTACTGCCTGGGCTGCTTGG	0.502000														87			85		0	0	1	0	0
TSPY2	64591	broad.mit.edu	37	Y	6115623	6115623	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:6115623T>C	uc004fqr.1	+	2	631	c.585T>C	c.(583-585)cgT>cgC	p.R195R	TSPY2_uc004fqs.1_Silent_p.R195R	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN	Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA.	195					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						AGAAGCATCGTGTTCATCTCT	0.438000														147			51		0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35317100	35317100	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35317100G>A	uc002xfw.3	-	3	323	c.181C>T	c.(181-183)Cat>Tat	p.H61Y	NDRG3_uc002xfx.3_Missense_Mutation_p.H49Y|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	61					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CCAATGTCATGATATGTTAGT	0.348000														43			41		0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9546967	9546967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:9546967G>A	uc002qzj.3	-	6	776	c.599C>T	c.(598-600)cCc>cTc	p.P200L	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Missense_Mutation_p.P150L|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Missense_Mutation_p.P156L|ITGB1BP1_uc002qzn.1_3'UTR	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	200	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CAGGATTCAGGGTTTCTCAGA	0.373000														46			15		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40141564	40141564	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:40141564T>A	uc002xka.1	-	4	951	c.773A>T	c.(772-774)gAt>gTt	p.D258V	CHD6_uc002xkd.2_Missense_Mutation_p.D236V|CHD6_uc002xkc.3_Missense_Mutation_p.D293V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	258					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin 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)				TTCCCCATCATCATCCACCAC	0.522000														249			212		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795587	96795587	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96795587T>G	uc010yui.2	-	7	850	c.850A>C	c.(850-852)Agt>Cgt	p.S284R		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	284					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTGGGGCCACTTGGGCTGCAG	0.617000														53			22		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38346709	38346709	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38346709G>A	uc010cwu.1	+	6	1010	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.E110K	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	380					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCCCACTGAGGACTGTGT	0.572000														51			19		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9857127G>A	uc010uym.2	-	13	4584	c.4274C>T	c.(4273-4275)tCg>tTg	p.S1425L	GRIN2A_uc002czo.4_Missense_Mutation_p.S1425L|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1425					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1425L(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGCTCCGAAATATACAC	0.473000														25			24		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186076056	186076056	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186076056C>T	uc001grq.1	+	69	11040	c.10811C>T	c.(10810-10812)cCt>cTt	p.P3604L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3604	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCATCCAGTCCTGCAGGAGAT	0.348000														90			26		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735477	54735477	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:54735477G>A	uc003pck.3	+	1	549	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	145										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATGATAAAAGAAGCAAGAAA	0.328000														15			16		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599299	29599299	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:29599299C>T	uc001usl.4	+	0	552	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	155						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGAAATTCCCCGGCATGTT	0.512000														38			50		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42657358	42657358	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42657358T>G	uc011dur.2	+	45	5374	c.5076T>G	c.(5074-5076)ttT>ttG	p.F1692L	UBR2_uc011dus.2_Missense_Mutation_p.F1337L|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.F280L|UBR2_uc011duu.2_Missense_Mutation_p.F84L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1692					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAGGCTGTTTTTATTCTCCTC	0.473000														473			35		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373626	7373626	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7373626C>T	uc003mxl.2	-	4	1957	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E340K|CAGE1_uc003mxj.3_Missense_Mutation_p.E231K|CAGE1_uc003mxk.2_Missense_Mutation_p.E476K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	476										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCCTCTTTTTCCCGTTTCAAC	0.398000														9			11		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360753	27360753	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27360753G>A	uc002rjb.2	-	2	1025	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	C2orf53_uc021vfb.1_Missense_Mutation_p.P149S	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	149	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCggggtgggaaggg	0.612000														8			25		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046357	69046357	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:69046357A>C	uc010fdg.3	+	8	1525	c.1106A>C	c.(1105-1107)aAt>aCt	p.N369T	ARHGAP25_uc010yql.2_Missense_Mutation_p.N329T|ARHGAP25_uc002sev.3_Missense_Mutation_p.N362T|ARHGAP25_uc002sew.3_Missense_Mutation_p.N361T|ARHGAP25_uc002sex.3_Missense_Mutation_p.N362T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	368					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCCAGAAAAATGACCCCAAG	0.512000														110			15		0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18462387	18462387	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:18462387T>C	uc002wqv.3	+	7	924	c.806T>C	c.(805-807)cTg>cCg	p.L269P	POLR3F_uc002wqw.3_Non-coding_Transcript|POLR3F_uc002wqx.3_Missense_Mutation_p.L228P	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa (POLR3F), mRNA.	269				AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						CACATGAAACTGTACAGGGCA	0.473000														273			52		0	0	1	0	0
CCNO	10309	broad.mit.edu	37	5	54528360	54528360	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:54528360G>A	uc003jpw.3	-	1	553	c.396C>T	c.(394-396)tcC>tcT	p.S132S	CCNO_uc003jpv.3_Non-coding_Transcript	NM_021147	NP_066970	P22674	CCNO_HUMAN	Homo sapiens cyclin O (CCNO), mRNA.	132					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GCTTACAGCGGGATTCCGCCG	0.647000														12			16		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:96180332G>A	uc001yfc.4	-	0	202	c.72C>T	c.(70-72)ttC>ttT	p.F24F	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Silent_p.F24F	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	24					multicellular organismal development	endoplasmic reticulum|microsome		p.K23N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL									67			45		0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973345	41973345	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:41973345G>A	uc003bal.2	-	7	828	c.766C>T	c.(766-768)Cca>Tca	p.P256S		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	256					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCTGTCTCTGGGAAGAAAATC	0.577000											OREG0026591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			32		0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6155094	6155094	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:6155094T>C	uc011jwo.1	+	2	505	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R	USP42_uc011jwn.1_5'UTR|USP42_uc010kth.1_Intron|USP42_uc011jwp.2_Missense_Mutation_p.C128R|USP42_uc011jwq.2_5'UTR|USP42_uc011jwr.1_5'Flank	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	128					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGCACTGCAGTGTTTAACCTA	0.438000														58			12		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351217	47351217	+	RNA	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47351217T>G	uc001cqo.1	-	3		c.444A>C			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGGCGGTGCTTTTTCCATTTA	0.443000														36			12		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679313	37679314	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:37679313_37679314GG>AA	uc001uwm.1	-	0	488_489	c.80_81CC>TT	c.(79-81)tcc>tTT	p.S27F		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	27	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.S27F(2)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CGTCTCCAAAGGAGCCAGACCC	0.540000														71			47		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128522423	128522423	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128522423T>G	uc002tpg.2	-	5	804	c.605A>C	c.(604-606)aAg>aCg	p.K202T	WDR33_uc002tph.2_Missense_Mutation_p.K202T|WDR33_uc002tpi.2_Missense_Mutation_p.K202T	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	202					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AATCGCCTCCTTATGTGCCTG	0.418000														123			9		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027070	37027070	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:37027070C>T	uc004ddl.2	+	0	639	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	196										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGGGTGTCCTGTCTCCCC	0.642000														1			26		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364962	29364962	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29364962T>C	uc003nmf.4	+	0	547	c.486T>C	c.(484-486)tcT>tcC	p.S162S		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TAATGACTTCTCGCTTGAACT	0.478000														120			8		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029226	17029226	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17029226G>A	uc001azn.1	-	5	1140	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TCTCCACGTGGCGGAGTTTGT	0.622000														87			6		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959588	129959588	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129959588A>C	uc003qbr.3	-	2	592	c.503T>G	c.(502-504)aTt>aGt	p.I168S	ARHGAP18_uc011ebw.2_Missense_Mutation_p.I168S|ARHGAP18_uc021zfe.1_Missense_Mutation_p.I165S	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	168					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GACGTCAGGAATCTGGTACTG	0.403000														82			33		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323507	44323507	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44323507C>T	uc002zcm.3	+	2	451	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	ACAGAAAGTTCTGTCTCCATT	0.493000														131			125		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123044256	123044256	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123044256G>A	uc003egh.2	-	7	2001	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ADCY5_uc021xdd.1_Silent_p.I317I|ADCY5_uc003egg.2_Silent_p.I300I|ADCY5_uc003egi.1_Silent_p.I226I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	667					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGTTGTGCCCGATGGAGTTGG	0.582000														222			58		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072515	17072515	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:17072515T>C	uc002zlp.1	-	0	1186	c.926A>G	c.(925-927)aAg>aGg	p.K309R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	309					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.D308E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATGCCATACTTGTCCGCCAG	0.537000														182			53		0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201887578	201887578	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201887578T>G	uc002uws.4	-	3	317	c.129A>C	c.(127-129)aaA>aaC	p.K43N	FAM126B_uc002uwu.3_5'UTR|FAM126B_uc002uwv.3_Missense_Mutation_p.K43N|FAM126B_uc002uww.1_Missense_Mutation_p.K43N	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	43						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGAATAACTTTATAGAGGG	0.328000														38			11		0	0	1	0	0
TRA@	6955	broad.mit.edu	37	14	22111158	22111158	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22111158G>A	uc001wbk.3	+	0	50	c.17G>A	c.(16-18)gGa>gAa	p.G6E						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		CAGGAACTGGGAATGCAGTGC	0.478000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									20			5		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203959	135203959	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135203959G>A	uc004cbk.3	-	9	3209	c.3026C>T	c.(3025-3027)tCc>tTc	p.S1009F	SETX_uc004cbj.3_Missense_Mutation_p.S628F|SETX_uc010mzt.3_Missense_Mutation_p.S628F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1009					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTCCACGGGAGGTATCTCC	0.383000														62			27		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	A	A	rs150472752		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122748207G>A	uc001ucd.3	-	2	321	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R70C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373000														1			11		0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653522	30653522	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30653522G>A	uc003nra.3	-	1	505	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	PPP1R18_uc003nrb.4_Missense_Mutation_p.R92W	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	92						cytoplasm|cytoskeleton	actin binding										cgctcctgcCGGATGAATCGG	0.632000														67			20		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62375207	62375207	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62375207G>A	uc010rly.1	-	10	1601	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	EML3_uc001ntr.1_Silent_p.F403F|EML3_uc001nts.1_Silent_p.F403F|EML3_uc001ntt.1_Silent_p.F315F|EML3_uc001ntu.1_Silent_p.F431F|EML3_uc009yny.1_Silent_p.F214F			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	431						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAATTCCAGAAGTGGACGT	0.547000														55			34		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144381566	144381566	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:144381566A>G	uc003ijd.3	+	8	2178	c.1819A>G	c.(1819-1821)Act>Gct	p.T607A	GAB1_uc003ije.3_Missense_Mutation_p.T577A|GAB1_uc011chq.2_Missense_Mutation_p.T474A	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	577					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GCATAGCACAACTTCAAGCAG	0.408000														107			32		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149585080	149585080	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149585080C>G	uc003lrr.3	+	12	1966	c.1595C>G	c.(1594-1596)cCg>cGg	p.P532R		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	532						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TACCGCTTCCCGCCCTGGGCT	0.612000														26			21		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28802570	28802570	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28802570A>C	uc002rmb.2	+	22	1606	c.1562A>C	c.(1561-1563)gAt>gCt	p.D521A	PLB1_uc010ezj.2_Missense_Mutation_p.D532A|PLB1_uc002rmc.3_Missense_Mutation_p.D209A|PLB1_uc002rmd.1_Missense_Mutation_p.D31A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	521	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTCTGCAATGATCTGGTAGGT	0.473000														62			13		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31297448	31297448	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31297448G>A	uc003jhe.2	+	3	936	c.576G>A	c.(574-576)ggG>ggA	p.G192G	CDH6_uc003jhd.2_Silent_p.G192G	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	192	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACATATGGGAACAGTGCTA	0.363000														19			82		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86968106	86968106	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:86968106A>G	uc002srr.2	+	1	576	c.199A>G	c.(199-201)Aga>Gga	p.R67G	RMND5A_uc002srs.4_5'UTR	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	67										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTGTAAAAGAATAAAGGA	0.388000														42			13		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152712494	152712494	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:152712494T>G	uc021zhb.1	-	49	8145	c.7922A>C	c.(7921-7923)aAg>aCg	p.K2641T	SYNE1_uc003qot.4_Missense_Mutation_p.K2648T|SYNE1_uc003qou.4_Missense_Mutation_p.K2641T|SYNE1_uc010kjb.1_Missense_Mutation_p.K2624T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2641					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CTGAATGGCCTTCACCCAGAA	0.552000										HNSCC(10;0.0054)				38			13		0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256664	12256664	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12256664T>C	uc010dyo.2	-	3	740	c.567A>G	c.(565-567)ggA>ggG	p.G189G	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Silent_p.G123G|ZNF625_uc021upn.1_Silent_p.G123G	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						ATTTGTAGGGTCCATCTCCAC	0.418000														88			23		0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21007080	21007080	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21007080T>G	uc010miq.2	-	6	701	c.655A>C	c.(655-657)Aga>Cga	p.R219R	PTPLAD2_uc010mir.1_Silent_p.R219R	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	219					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		AGGATGTCTCTTCTTTCTGAG	0.363000														46			10		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642394	19642394	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:19642394G>A	uc002ykw.3	-	24	2983	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	984	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAGCAAGGAACCACCTGT	0.443000														99			14		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334271	108334271	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:108334271C>T	uc003ymn.3	-	3	1129	c.661G>A	c.(661-663)Ggc>Agc	p.G221S	ANGPT1_uc011lhv.2_Missense_Mutation_p.G21S|ANGPT1_uc003ymo.3_Missense_Mutation_p.G221S|ANGPT1_uc003ymp.4_Missense_Mutation_p.G21S	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	221					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G221G(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTAACCAAGCCTTGAAGGTTC	0.393000														24			31		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515861	51515861	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:51515861G>A	uc010ric.2	+	0	580	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E194V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATATGCTGGAACTCTTCAT	0.463000														47			46		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129748212	129748212	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:129748212G>A	uc001qfg.3	-	12	1699	c.1578C>T	c.(1576-1578)gtC>gtT	p.V526V	NFRKB_uc001qfi.3_Silent_p.V501V|NFRKB_uc001qfh.3_Silent_p.V524V|NFRKB_uc010sbw.1_Missense_Mutation_p.S512F	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	501					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACACCCGAGGGACAGGTGTTG	0.433000														36			29		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036900	75036900	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75036900T>C	uc001dgg.3	-	13	4713	c.4494A>G	c.(4492-4494)ccA>ccG	p.P1498P		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1498										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGGCTTCACTGGAAGTGTTG	0.517000														164			30		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331632	21331632	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21331632G>A	uc001req.4	+	5	708	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	202					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTCGCTAAAGAAGGACATTC	0.338000														28			27		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21827781	21827781	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:21827781T>A	uc003xaa.4	+	3	488	c.386T>A	c.(385-387)gTc>gAc	p.V129D	XPO7_uc010ltj.1_Non-coding_Transcript	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	129					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.Y128N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GATGACTATGTCTTCAGAAAT	0.393000														77			10		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880029	39880029	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39880029C>T	uc009vvt.1	+	0	4854	c.4092C>T	c.(4090-4092)tcC>tcT	p.S1364S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1228										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGCTTCCTCCACTGGAATGT	0.512000														24			14		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272774	28272774	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28272774C>T	uc009xky.3	-	5	915	c.817G>A	c.(817-819)Ggt>Agt	p.G273S	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G273S|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	273							binding	p.G273A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTACTTACACCATTTAAAAAT	0.403000														27			18		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825279	4825279	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4825279G>A	uc021qcs.1	-	0	332	c.332C>T	c.(331-333)tCt>tTt	p.S111F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A110V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCACAGAAGAAAAGGCATG	0.527000														64			21		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450696	70450697	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:70450696_70450697CC>TT	uc001jok.4	+	11	6041_6042	c.5536_5537CC>TT	c.(5536-5538)cca>TTa	p.P1846L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1846					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.P1846L(3)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGAGGCATCTCCAGGCTTCTCC	0.490000														3			62		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64239264	64239264	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:64239264T>C	uc002lkc.1	-	1	316	c.178A>G	c.(178-180)Agt>Ggt	p.S60G	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.S60G|CDH19_uc002lkd.3_Missense_Mutation_p.S60G	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGTGATGACTAGTCGTATTC	0.373000														13			15		0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46032600	46032600	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46032600T>C	uc002pcj.4	-	1	357	c.257A>G	c.(256-258)gAg>gGg	p.E86G		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	86					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GATGATGCCCTCGCCCAGCAG	0.627000														141			8		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918695	43918695	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:43918695A>G	uc001uza.4	-	8	1315	c.1015T>C	c.(1015-1017)Tta>Cta	p.L339L	ENOX1_uc001uzc.4_Silent_p.L339L|ENOX1_uc001uzb.4_Silent_p.L339L|ENOX1_uc010tfm.1_Silent_p.L152L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	339					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATCCCAGTTAAGGCATTTTTA	0.408000														64			5		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341250	42341250	+	Silent	SNP	G	A	A	rs148256898		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42341250G>A	uc002orp.1	-	4	1692	c.708C>T	c.(706-708)gtC>gtT	p.V236V	LYPD4_uc002orq.1_Silent_p.V201V	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	236						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGCCTAAGACGACACCCCAAG	0.483000														43			31		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122292607	122292607	+	Splice_Site	SNP	A	G	G	rs113807474		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122292607A>G	uc001ubj.3	-	7	454	c.414_splice	c.e7+1	p.T138_splice	HPD_uc001ubk.3_Splice_Site_p.T99_splice	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	138					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	AAGGGAACTCACCGTCTGCAG	0.602000														62			29		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592584	83592584	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83592584C>T	uc003uhz.3	-	15	2112	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	599	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity	p.P599P(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTGCGACTTCGGACTGCATT	0.438000														69			45		0	0	1	0	0
TXLNG	55787	broad.mit.edu	37	X	16850829	16850829	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:16850829A>T	uc004cxq.2	+	5	1004	c.948A>T	c.(946-948)aaA>aaT	p.K316N	TXLNG_uc010ney.2_Missense_Mutation_p.K184N|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	316					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						AACTGATAAAAGAAGCTGATG	0.393000														27			18		0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111365921	111365921	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111365921T>G	uc001plj.3	-	4	829	c.629A>C	c.(628-630)aAg>aCg	p.K210T		NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	Homo sapiens B-cell translocation gene 4 (BTG4), mRNA.	210					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		CCTGTAACACTTAGGATGCTT	0.562000														40			7		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46238906	46238906	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:46238906C>T	uc003bgm.2	+	10	1539	c.1273C>T	c.(1273-1275)Ctt>Ttt	p.L425F	ATXN10_uc011aqt.2_Missense_Mutation_p.L361F|ATXN10_uc003bgn.2_Missense_Mutation_p.L236F	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	425					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CATCCGAAACCTTACCGAAGA	0.428000														72			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179572401	179572401	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179572401C>T	uc021vsy.1	-	96	25386	c.25161G>A	c.(25159-25161)aaG>aaA	p.K8387K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K5048K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9314	Ig-like 66.						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)			TGTCTGAAGGCTTTATTTCCC	0.488000														19			32		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4130766	4130766	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:4130766A>G	uc003mwf.3	-	3	378	c.341T>C	c.(340-342)tTg>tCg	p.L114S	C6orf201_uc003mwa.4_3'UTR|C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc003mwb.4_Non-coding_Transcript|ECI2_uc021yku.1_Missense_Mutation_p.L84S|ECI2_uc003mwc.3_5'UTR|ECI2_uc003mwd.3_Missense_Mutation_p.L84S|ECI2_uc003mwe.3_5'UTR|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	114	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACTGGACACCAAATCCACATA	0.463000														56			7		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184615119	184615119	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:184615119A>G	uc003ivx.3	+	21	2638	c.2436A>G	c.(2434-2436)acA>acG	p.T812T	TRAPPC11_uc003ivw.3_Silent_p.T812T|TRAPPC11_uc010isc.3_Silent_p.T156T|TRAPPC11_uc003ivy.3_Silent_p.T418T	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	812				T -> P (in Ref. 1; CAD91169, 4; CAG38584 and 5; CAB66686).													TTCATGGAACAGAACTGTGTG	0.413000														41			24		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696164	10696164	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:10696164C>T	uc002kos.2	-	42	6933	c.6759G>A	c.(6757-6759)agG>agA	p.R2253R	PIEZO2_uc002koq.3_Silent_p.R108R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2253						integral to membrane	ion channel activity										GTACAGTCTTCCTGAGGTAGA	0.512000														44			65		0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124564247	124564247	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124564247A>C	uc001qap.3	+	4	497	c.361A>C	c.(361-363)Atc>Ctc	p.I121L		NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	121	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGCTGTCAAAATCCAAGCTGC	0.403000														60			20		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757798	62757798	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:62757798C>T	uc003peg.2	-	2	568	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	107	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.S106T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTTATCTCTCATTGATCCTT	0.403000														56			38		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118951	93118951	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93118951C>T	uc001yap.3	+	5	1709	c.1557C>T	c.(1555-1557)gcC>gcT	p.A519A	RIN3_uc010auk.3_Silent_p.A181A|RIN3_uc001yaq.3_Silent_p.A444A|RIN3_uc001yar.1_Silent_p.A181A|RIN3_uc001yas.1_Silent_p.A181A	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	519					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGCCACTGCCCATTCCCAGA	0.647000														30			21		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433165	45433165	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:45433165G>A	uc001zus.1	+	13	1808	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	DUOX1_uc001zut.1_Missense_Mutation_p.E488K|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	488	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGGACTCCTGGAGAGCCACCG	0.572000														4			48		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37028483G>A	uc002rpl.3	+	12	1400	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	VIT_uc002rpm.3_Silent_p.T351T|VIT_uc010ezv.3_Silent_p.T329T|VIT_uc010ezw.3_Silent_p.T330T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	351	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393000														70			108		0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45598997	45598997	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45598997A>G	uc003bfv.1	-	5	939	c.753T>C	c.(751-753)ttT>ttC	p.F251F	KIAA0930_uc003bfx.1_Silent_p.F242F|KIAA0930_uc010gzw.1_Silent_p.F94F|KIAA0930_uc003bfw.1_Silent_p.F247F|KIAA0930_uc010gzx.2_Silent_p.F224F|MIR1249_uc021wrh.1_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	242							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCATGCGCACAAACTCCATGT	0.637000														290			5		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118036	93118036	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93118036C>T	uc001yap.3	+	5	794	c.642C>T	c.(640-642)gcC>gcT	p.A214A	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Silent_p.A139A|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	214					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCCCACAGCCCATGACGCAA	0.587000														48			37		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24625908	24625908	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:24625908A>G	uc004dbi.3	-	2	521	c.288T>C	c.(286-288)ctT>ctC	p.L96L	PCYT1B_uc004dbk.4_Silent_p.L96L|PCYT1B_uc004dbj.3_Silent_p.L78L	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	96	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTGCTTGCATAAGGGCTCTTG	0.418000														1			20		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112493822	112493822	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:112493822C>T	uc003pvu.2	-	11	1851	c.1542G>A	c.(1540-1542)cgG>cgA	p.R514R	LAMA4_uc003pvv.2_Silent_p.R507R|LAMA4_uc003pvt.2_Silent_p.R507R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	514	Domain II and I.				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)		CCTCATGGTCCCGCTGCCTGG	0.478000														22			13		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888441	46888441	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46888441G>A	uc002zhi.3	+	1	953	c.932G>A	c.(931-933)gGg>gAg	p.G311E	COL18A1_uc002zhg.3_Missense_Mutation_p.G131E	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	546					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GTGCAGGACGGGCACCAGGAC	0.672000														6			65		0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25054776	25054776	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:25054776C>T	uc001rgd.4	-	1	577	c.50G>A	c.(49-51)gGa>gAa	p.G17E	BCAT1_uc001rgc.3_Missense_Mutation_p.G16E|BCAT1_uc010six.2_Missense_Mutation_p.G29E|BCAT1_uc010siy.2_Missense_Mutation_p.G17E|BCAT1_uc001rge.4_Intron	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	17					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTCTTTTGATCCTCCTTCTCC	0.453000														18			16		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75113082	75113082	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75113082A>C	uc002ayt.1	+	7	883	c.881A>C	c.(880-882)aAa>aCa	p.K294T	LMAN1L_uc010bke.1_Missense_Mutation_p.K282T	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	294						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTAACTCCAAAATCAGACTCT	0.617000														31			21		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516511	154516511	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154516511C>T	uc009wow.3	+	8	1414	c.576C>T	c.(574-576)gtC>gtT	p.V192V	TDRD10_uc001ffd.3_Silent_p.V192V|TDRD10_uc001ffe.3_Silent_p.V113V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	192							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATAGCGTCCGTGGGGAGG	0.612000														96			43		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843572	40843572	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:40843572A>G	uc003jmg.3	+	1	677	c.602A>G	c.(601-603)gAg>gGg	p.E201G		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	201	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGAGATATGAGGAGCTAGAT	0.378000														42			8		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52867073	52867073	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52867073T>G	uc001ctt.3	-	2	415	c.184A>C	c.(184-186)Aac>Cac	p.N62H	ORC1_uc010oni.2_Missense_Mutation_p.N62H|ORC1_uc001ctu.3_Missense_Mutation_p.N62H	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	62	BAH.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACATACGGGTTTTCATCATCA	0.418000														121			32		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748507	71748507	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:71748507G>A	uc002fax.3	-	0	198	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PHLPP2_uc010cgf.3_Silent_p.L64L|PHLPP2_uc002fay.1_Silent_p.L64L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	64						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCAAAGGACGAGATGTAAGT	0.493000														1			16		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64542770	64542770	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64542770A>C	uc001xgl.3	+	53	11204	c.10974A>C	c.(10972-10974)gaA>gaC	p.E3658D	SYNE2_uc001xgm.3_Missense_Mutation_p.E3658D|SYNE2_uc021ruh.1_Missense_Mutation_p.E3691D|SYNE2_uc010apy.3_Missense_Mutation_p.E20D|SYNE2_uc010apw.1_Missense_Mutation_p.E364D|SYNE2_uc010apx.1_Missense_Mutation_p.E50D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3658					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATTGAATCCCAGGTGG	0.358000														37			4		0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917695	2917695	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2917695C>T	uc002lwr.3	+	3	1224	c.1076C>T	c.(1075-1077)aCt>aTt	p.T359I	ZNF57_uc010xha.2_Missense_Mutation_p.T327I	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACGCACACTGGAGAGAAA	0.448000														38			29		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745915	14745915	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:14745915A>C	uc003byy.3	+	6	1402	c.950A>C	c.(949-951)aAg>aCg	p.K317T	C3orf20_uc003byz.3_Missense_Mutation_p.K195T|C3orf20_uc003bza.3_Missense_Mutation_p.K195T|C3orf20_uc003byx.2_Intron	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	317						cytoplasm|integral to membrane		p.K317N(1)|p.K317E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TACAAGGCAAAGATGCCCTCT	0.507000														64			26		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691601	31691601	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31691601C>T	uc011doc.2	+	1	287	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Missense_Mutation_p.R83C|C6orf25_uc003nwk.3_Missense_Mutation_p.R83C|C6orf25_uc011dod.2_Missense_Mutation_p.R83C|C6orf25_uc003nwn.3_Missense_Mutation_p.R83C|C6orf25_uc011doe.2_Missense_Mutation_p.R83C|C6orf25_uc003nwo.3_Missense_Mutation_p.R83C	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	83						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTTCGTCGGCCGCCTACGCTC	0.682000														80			69		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306931	162306931	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:162306931C>T	uc003iqh.3	-	15	2948	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	FSTL5_uc003iqi.3_Missense_Mutation_p.G837R|FSTL5_uc010iqv.3_Missense_Mutation_p.G828R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	838						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTGTATTTCCTTTTTCAACT	0.358000														28			47		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738685	12738685	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12738685C>T	uc002mua.2	+	3	504	c.342C>T	c.(340-342)tcC>tcT	p.S114S	ZNF791_uc010xml.1_Silent_p.S82S|ZNF791_uc010dyu.1_Silent_p.S5S|ZNF791_uc010xmm.1_Silent_p.S5S	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTCTCTCATCCCTTACTAGAC	0.423000														100			75		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087780	31087780	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31087780T>C	uc002eap.3	+	1	424	c.135T>C	c.(133-135)ccT>ccC	p.P45P	ZNF668_uc010caf.3_5'Flank|ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Silent_p.P45P	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACAGCATCCCTCGGCCCTACC	0.627000														100			8		0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91485796	91485796	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91485796A>T	uc002bqg.3	+	6	1157	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	UNC45A_uc002bqd.3_Nonsense_Mutation_p.K258*|UNC45A_uc010uqo.1_Nonsense_Mutation_p.K265*|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Nonsense_Mutation_p.K273*	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	273					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAAGGTGTCAAAAAAGGCTT	0.562000														33			16		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320538	136320538	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:136320538T>C	uc004cdv.4	+	24	3825	c.3381T>C	c.(3379-3381)gcT>gcC	p.A1127A	ADAMTS13_uc004cdp.4_Silent_p.A354A|ADAMTS13_uc004cdt.1_Silent_p.A1127A|ADAMTS13_uc004cdu.1_Silent_p.A1096A|ADAMTS13_uc004cdw.4_Silent_p.A1127A|ADAMTS13_uc004cdx.4_Silent_p.A1096A|ADAMTS13_uc004cdz.4_Silent_p.A797A|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1127	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTGCTGGGCTGGGCCCTGTG	0.697000														80			26		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477538	10477538	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10477538A>C	uc001arc.3	+	9	1171	c.1081A>C	c.(1081-1083)Atg>Ctg	p.M361L	PGD_uc010oak.2_Missense_Mutation_p.M339L	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	361					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CATCGCCCTGATGTGGAGAGG	0.552000														117			9		0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143078777	143078778	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143078777_143078778CC>TT	uc003wcx.3	+	1	271_272	c.113_114CC>TT	c.(112-114)ccc>cTT	p.P38L	ZYX_uc011ktd.2_Intron|ZYX_uc003wcw.3_Missense_Mutation_p.P38L|ZYX_uc011kte.2_Missense_Mutation_p.P38L|ZYX_uc011ktf.2_5'Flank	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	38					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAAGTGAATCCCTTCCGGCCCG	0.708000														18			8		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220178622	220178622	+	Missense_Mutation	SNP	G	T	T	rs147887545		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220178622G>T	uc001hly.1	-	15	2301	c.2031C>A	c.(2029-2031)ttC>ttA	p.F677L	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.F428L|EPRS_uc001hlz.1_Missense_Mutation_p.F684L|EPRS_uc009xdt.1_Missense_Mutation_p.F265L	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	677	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	p.G676R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACATATGAAGAATCCTCTTC	0.333000														29			8		2.17888e-05	2.18237e-05	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122319727	122319727	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:122319727C>T	uc004etq.4	+	1	445	c.153C>T	c.(151-153)ttC>ttT	p.F51F	GRIA3_uc004etr.4_Silent_p.F51F|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.F35F|GRIA3_uc010nqs.2_Silent_p.F51F	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	51					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAGCGCTTTCCGCTTTGCCG	0.478000														11			18		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54610386	54610386	+	Silent	SNP	G	A	A	rs150004831		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:54610386G>A	uc001cwv.1	-	1	1028	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	60	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557000														39			9		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154291320	154291320	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154291320T>A	uc003lvx.3	-	14	2217	c.2134A>T	c.(2134-2136)Act>Tct	p.T712S	GEMIN5_uc011ddk.1_Missense_Mutation_p.T711S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	712					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCATGGAAGTGAGCCACTTG	0.468000														16			14		0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15338390	15338390	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15338390A>T	uc002nap.3	-	6	1150	c.941T>A	c.(940-942)cTg>cAg	p.L314Q	EPHX3_uc002naq.3_Missense_Mutation_p.L314Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA.	314						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCTTCCACCAGCCCCAGCTC	0.632000														33			17		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421229	12421229	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12421229C>T	uc003bwx.3	+	1	200	c.109C>T	c.(109-111)Cca>Tca	p.P37S	PPARG_uc003bwr.3_Missense_Mutation_p.P9S|PPARG_uc003bws.3_Missense_Mutation_p.P9S|PPARG_uc003bwu.3_Missense_Mutation_p.P9S|PPARG_uc003bwv.3_Missense_Mutation_p.P9S|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.P9S|PPARG_uc003bww.1_Missense_Mutation_p.P37S	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	37				MP -> IA (in Ref. 3; BAA18949).	activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.P37S(2)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CACAGAGATGCCATTCTGGCC	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							28			42		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31437407	31437407	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31437407G>A	uc010cap.1	+	29	3496	c.3447G>A	c.(3445-3447)ggG>ggA	p.G1149G	ITGAD_uc002ebv.1_Silent_p.G1148G	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1148					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATTCAGTGGGGACGATTTCA	0.463000														18			4		0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35530158	35530158	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35530158A>G	uc002nxp.3	+	3	719	c.586A>G	c.(586-588)Aat>Gat	p.N196D	SCN1B_uc010xsg.2_Missense_Mutation_p.N125D|HPN_uc002nxq.2_5'Flank|HPN_uc002nxr.2_5'Flank	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant a, mRNA.	196					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCACAGGAGAATGCGTGAGT	0.602000														73			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752073	140752073	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140752073C>T	uc003ljw.2	+	0	2112	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.L704L|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	706					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTTCCTCCTCGCGGTGA	0.587000														33			28		0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30741121	30741121	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30741121T>G	uc003ahl.3	-	3	584	c.452A>C	c.(451-453)gAg>gCg	p.E151A	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	151					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AGCAATGAACTCAAACTCAGG	0.542000														86			6		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764513	205764513	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205764513G>A	uc001hdh.1	-	8	2038	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L	SLC41A1_uc001hdg.1_Missense_Mutation_p.P10L	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	389						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACAGCGGCGAGGAGCTTGCTC	0.612000														28			20		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335673	57335673	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57335673G>A	uc002qnu.2	-	0	702	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_5'UTR|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_5'UTR|PEG3_uc002qnq.2_5'UTR|PEG3_uc002qnt.2_Silent_p.L117L|PEG3_uc002qnv.2_Silent_p.L117L|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Silent_p.L117L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	117	SCAN box.				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)		GCAGAGTGACGAGCTTCTCAC	0.547000														115			58		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173894920	173894920	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:173894920T>A	uc002uhv.4	+	25	2774	c.2587T>A	c.(2587-2589)Ttt>Att	p.F863I	RAPGEF4_uc002uhw.4_Missense_Mutation_p.F719I	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	863	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCTGAATTCCTTTTTTGCCAT	0.408000														54			10		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34149772	34149772	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34149772A>G	uc002hkd.3	+	5	505	c.419A>G	c.(418-420)gAt>gGt	p.D140G	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.D137G	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	140	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGCAGCATGATTCCTATAGT	0.408000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									37			19		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496105	45496105	+	Missense_Mutation	SNP	G	A	A	rs138129932		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45496105G>A	uc002pai.3	+	13	2014	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	CLPTM1_uc010xxf.2_Missense_Mutation_p.E552K|CLPTM1_uc010xxg.2_Missense_Mutation_p.E640K|CLPTM1_uc021uvo.1_Missense_Mutation_p.R151Q	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	654					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTCTGCCAGCGAGCCCCAGGA	0.672000														20			34		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692633	100692633	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100692633A>C	uc004axy.3	-	2	1152	c.1044T>G	c.(1042-1044)caT>caG	p.H348Q	HEMGN_uc004axz.3_Missense_Mutation_p.H348Q	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	348					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AGTCTTCAGAATGAGGTGTTT	0.363000														120			11		0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	82000023	82000023	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:82000023G>A	uc010tvv.2	-	0	183	c.66C>T	c.(64-66)tcC>tcT	p.S22S	SEL1L_uc001xvo.4_Silent_p.S22S	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	22	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACTGACCCGAGGACGCCGAGG	0.721000														19			13		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154866399	154866399	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:154866399A>C	uc010hvr.1	+	15	1769	c.1558A>C	c.(1558-1560)Agt>Cgt	p.S520R	MME_uc003fab.1_Missense_Mutation_p.S520R|MME_uc003fac.1_Missense_Mutation_p.S520R|MME_uc003fad.1_Missense_Mutation_p.S520R|MME_uc003fae.1_Missense_Mutation_p.S520R	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	520					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATTCAGCCAAAGTAAACAACT	0.343000														67			8		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074818	143074818	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:143074818G>A	uc003qjd.3	-	9	7510	c.6767C>T	c.(6766-6768)cCa>cTa	p.P2256L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCCTCCATTGGCAGGGGCAA	0.577000														6			31		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049245	23049245	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23049245A>C	uc003xda.3	-	9	1475	c.1369T>G	c.(1369-1371)Tta>Gta	p.L457V		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	457					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|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)		CCATCTTCTAAGTAGATGAAC	0.458000														33			11		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369317	86369317	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:86369317C>A	uc001vll.1	-	1	1786	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	SLITRK6_uc021rla.1_Nonsense_Mutation_p.E443*	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	443						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCATTGTATTCAAGATATAAG	0.353000														34			8		0.000442599	0.000442954	1	1	0
ME1	4199	broad.mit.edu	37	6	83963402	83963402	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:83963402G>A	uc003pjy.3	-	6	1025	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ME1_uc011dzb.2_Missense_Mutation_p.R179C|ME1_uc011dzc.2_Missense_Mutation_p.R88C	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	254					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCAGGAGACGAAATGCATTC	0.328000														3			28		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038933	41038933	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41038933C>T	uc003jmj.4	-	20	2609	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	HEATR7B2_uc003jmi.4_Missense_Mutation_p.A262T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	707							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGGCCACTGCTCCATAGATG	0.463000														15			58		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886175	144886175	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:144886175T>G	uc021ouh.1	-	22	3361	c.3059A>C	c.(3058-3060)aAg>aCg	p.K1020T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.K1020T|PDE4DIP_uc001elx.4_Missense_Mutation_p.K1086T|PDE4DIP_uc001elv.4_Missense_Mutation_p.K27T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1020					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCTTTCCTCTTCTCTTCTAA	0.507000			T	PDGFRB	MPD									129			13		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052741	177052741	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:177052741C>T	uc003iuj.3	+	7	1325	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	WDR17_uc003ium.4_Missense_Mutation_p.S317F|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	341										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CATTATACATCCTCAACAAGC	0.373000														37			51		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8194179	8194179	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8194179G>A	uc002mjf.3	-	15	2132	c.2115C>T	c.(2113-2115)taC>taT	p.Y705Y		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	705	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGACACAGCGGTAGCTGCCCC	0.617000														25			31		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096948	51096948	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:51096948T>G	uc003tps.3	-	10	2201	c.2016A>C	c.(2014-2016)ttA>ttC	p.L672F	COBL_uc003tpr.4_Missense_Mutation_p.L615F|COBL_uc011kcl.2_Missense_Mutation_p.L615F|COBL_uc003tpp.4_Missense_Mutation_p.L401F|COBL_uc003tpq.4_Missense_Mutation_p.L556F|COBL_uc003tpo.4_Missense_Mutation_p.L157F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	615										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGATGTTAGATAAGGCCACAC	0.498000														78			5		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146164	55146164	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55146164T>A	uc002qgj.3	+	10	1773	c.1433T>A	c.(1432-1434)cTc>cAc	p.L478H	LILRB1_uc010erp.1_Missense_Mutation_p.L93H|LILRB1_uc002qgl.3_Missense_Mutation_p.L478H|LILRB1_uc002qgk.3_Missense_Mutation_p.L479H|LILRB1_uc002qgm.3_Missense_Mutation_p.L479H|LILRB1_uc010erq.3_Missense_Mutation_p.L462H|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	478					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ctcctcctcctcctcttcctc	0.612000										HNSCC(37;0.09)				183			22		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158250197	158250197	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:158250197A>C	uc010jip.3	-	7	1067	c.765T>G	c.(763-765)tcT>tcG	p.S255S	EBF1_uc011ddw.2_Silent_p.S122S|EBF1_uc011ddx.2_Silent_p.S255S|EBF1_uc003lxl.4_Intron	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	255					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTCCAGATAAGAGGGCGTAC	0.458000			T	HMGA2	lipoma									8			27		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64189496	64189496	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:64189496T>C	uc002scq.3	-	6	869	c.706A>G	c.(706-708)Acc>Gcc	p.T236A	VPS54_uc002scp.3_Missense_Mutation_p.T224A|VPS54_uc010fct.3_Missense_Mutation_p.T119A	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	236					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGTTGAGAGGTCATTGCATGA	0.393000														59			15		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714285	183714285	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:183714285G>A	uc003ivd.1	+	24	6535	c.6460G>A	c.(6460-6462)Gat>Aat	p.D2154N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2154					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTACAACTACGATCTGAATGG	0.458000														84			28		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6942778	6942778	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6942778T>C	uc001qra.1	+	7	1266	c.1232T>C	c.(1231-1233)cTc>cCc	p.L411P	GPR162_uc001qrb.1_Missense_Mutation_p.L219P	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	497						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R411H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCTGCAGCTCTCATCCCTGAG	0.582000														55			15		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924127	43924127	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:43924127C>T	uc010wka.2	+	0	1872	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	619						integral to membrane	aspartic-type endopeptidase activity										CTTCATCCCCCCTGGGGCCTC	0.607000														5			55		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790432	133790432	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:133790432G>A	uc001qgx.4	-	17	3419	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1063	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CACATCACAGGGTGGCAGCTG	0.706000														2			48		0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195965646G>A	uc003fwg.3	-	9	1190	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Silent_p.S339S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607000														100			30		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153784323	153784323	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153784323G>A	uc001fdb.4	-	10	1775	c.1531_splice	c.e10-1	p.A511_splice		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	511						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCTGTGGAGCCTGCAATGA	0.517000														16			23		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827847	1827847	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1827847T>G	uc002lua.4	-	1	1036	c.941A>C	c.(940-942)gAg>gCg	p.E314A	REXO1_uc010dsr.1_Missense_Mutation_p.E268A	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	314						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTGATCTCAGGGTCGGC	0.682000														34			6		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17295733	17295733	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17295733C>T	uc010eak.3	+	16	2585	c.2433C>T	c.(2431-2433)acC>acT	p.T811T	MYO9B_uc002nfi.3_Silent_p.T811T|MYO9B_uc002nfj.1_Silent_p.T811T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	811	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity	p.R810H(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACGACCGCACCACCAAGTCCC	0.587000														56			53		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406499	7406499	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7406499T>C	uc002ghf.4	+	16	3202	c.2816T>C	c.(2815-2817)gTg>gCg	p.V939A		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	939					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGGACCTGGTGAAGGACGTG	0.587000														40			13		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576146	20576146	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20576146G>A	uc002dhj.4	-	2	232	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.Q8*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.Q8*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	8					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAAAGTCCCTGAACTTTTCGC	0.502000														22			16		0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172965456	172965456	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:172965456T>G	uc002uhn.3	-	2	1014	c.802A>C	c.(802-804)Agc>Cgc	p.S268R		NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTGCTCGGGCTGGAGCCCGAG	0.731000														6			4		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91867004	91867004	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:91867004A>G	uc003ulr.1	-	5	1224	c.332T>C	c.(331-333)tTt>tCt	p.F111S	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Missense_Mutation_p.F111S|KRIT1_uc003uls.1_Missense_Mutation_p.F111S|KRIT1_uc003ult.1_Missense_Mutation_p.F111S|KRIT1_uc003ulu.1_Missense_Mutation_p.F111S|KRIT1_uc003ulv.1_Missense_Mutation_p.F111S	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	111					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGAACAATAAATAATGATGC	0.299000														33			5		0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47085787	47085787	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:47085787A>C	uc011mli.2	+	8	1444	c.920A>C	c.(919-921)aAg>aCg	p.K307T	CDK16_uc011mlj.2_3'UTR|CDK16_uc004dho.3_Missense_Mutation_p.K301T|CDK16_uc011mlk.2_Missense_Mutation_p.K301T|CDK16_uc011mll.2_Missense_Mutation_p.K375T	NM_033018	NP_006192	Q00536	CDK16_HUMAN	Homo sapiens cyclin-dependent kinase 16 (CDK16), transcript variant 2, mRNA.	301	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GGAGAGCTCAAGCTGGCTGAC	0.582000														17			3		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196740407	196740407	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196740407C>T	uc002utj.4	-	37	6379	c.6278G>A	c.(6277-6279)gGa>gAa	p.G2093E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2093	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						ACCTGGAGGTCCCATAGCACA	0.363000														22			7		0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615701	1615701	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1615701G>A	uc002ltr.3	-	16	1639	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	TCF3_uc002ltn.3_5'UTR|TCF3_uc002lto.3_Missense_Mutation_p.P285S|TCF3_uc002ltt.4_Missense_Mutation_p.P524S|TCF3_uc002ltq.3_Missense_Mutation_p.P473S|TCF3_uc002lts.1_Missense_Mutation_p.P440S	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	524					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCCCGGGGGGCCTTCAGC	0.682000			T	"""PBX1, HLF, TFPT"""	pre B-ALL									96			29		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702896	40702896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:40702896C>T	uc010mmj.3	+	3	582	c.553C>T	c.(553-555)Cag>Tag	p.Q185*		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	185	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAGTGCCTCCCAGCCACCAGA	0.607000														105			14		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53670637	53670637	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53670637C>T	uc001sck.2	+	7	2025	c.1934C>T	c.(1933-1935)aCc>aTc	p.T645I	ESPL1_uc001scj.2_Missense_Mutation_p.T320I|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	645					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACGCAGCAGACCAACTGGTAA	0.607000														3			56		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461747	12461747	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12461747A>C	uc002mtr.1	-	5	1263	c.652T>G	c.(652-654)Ttt>Gtt	p.F218V	ZNF442_uc010xmk.1_Missense_Mutation_p.F149V	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GGCCAAAAAAAGGCTTTCCCA	0.408000														119			20		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626722	43626722	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:43626722C>T	uc011lrb.2	-	3	1994	c.1965G>A	c.(1963-1965)gtG>gtA	p.V655V		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	655						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GCTGGAACTTCACCTTCTGTG	0.562000														26			23		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379249	57379249	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57379249G>A	uc001nkp.1	+	6	1280	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	SERPING1_uc010rju.1_Silent_p.L311L|SERPING1_uc010rjv.1_Silent_p.L368L|SERPING1_uc001nkr.1_Silent_p.L363L|SERPING1_uc001nks.1_Silent_p.L54L	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	363					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCAGAACCTGAAACATCGTC	0.493000														97			67		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232071	71232071	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71232071A>G	uc002jjm.4	+	2	644	c.450A>G	c.(448-450)agA>agG	p.R150R	C17orf80_uc010wqu.1_Silent_p.R150R|C17orf80_uc010dfj.3_Silent_p.R150R|C17orf80_uc002jjk.1_Silent_p.R150R|C17orf80_uc002jjl.4_Silent_p.R150R	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	150						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCCTAAAAGAGAACTTGCCA	0.383000														39			27		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227244	142227244	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142227244G>A	uc003ywd.1	-	4	1829	c.1521C>T	c.(1519-1521)gtC>gtT	p.V507V	SLC45A4_uc003ywc.1_Silent_p.V507V|SLC45A4_uc010meq.1_Silent_p.V505V	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	558					transport	integral to membrane		p.V507V(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCCCATCTTGACCCCGGCGT	0.617000														51			45		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816927	55816927	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55816927A>C	uc002qkf.3	+	17	2038	c.1911A>C	c.(1909-1911)aaA>aaC	p.K637N	BRSK1_uc002qkg.3_Missense_Mutation_p.K621N|BRSK1_uc002qkh.3_Missense_Mutation_p.K316N	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	621					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCAGCATCAAAGCAGACATCG	0.557000														501			13		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928204	6928204	+	Silent	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6928204A>C	uc002mfw.3	+	16	2309	c.2271A>C	c.(2269-2271)ccA>ccC	p.P757P	EMR1_uc010dvc.3_Silent_p.P692P|EMR1_uc010dvb.3_Silent_p.P705P|EMR1_uc010xji.2_Silent_p.P616P|EMR1_uc010xjj.2_Silent_p.P580P	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	757					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)					TCTTGGGGCCAGTTTGCACAG	0.502000														127			45		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050230	84050230	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:84050230G>A	uc002fhg.1	-	7	1056	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	352					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGACCCACAGGATGGTCAGCG	0.622000														5			37		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191588	149191588	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149191588G>A	uc010lpi.2	-	1	302	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	ZNF746_uc003wfw.2_Missense_Mutation_p.P11S	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	11					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.P11S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ATCGTCCACGGAGAAATCTTT	0.547000														64			18		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635103	34635103	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34635103T>C	uc002yrd.3	+	8	1174	c.846T>C	c.(844-846)ttT>ttC	p.F282F	IFNAR2_uc002yre.3_Silent_p.F282F|IFNAR2_uc002yrf.3_Missense_Mutation_p.S239P|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	282					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTAAGAATTTTCATAACTTTT	0.378000														52			17		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150812123	150812123	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150812123G>A	uc001evr.2	-	5	481	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	ARNT_uc001evs.2_Missense_Mutation_p.H79Y|ARNT_uc009wmd.2_Missense_Mutation_p.H79Y|ARNT_uc009wmb.2_Missense_Mutation_p.H85Y|ARNT_uc009wmc.2_Missense_Mutation_p.H94Y|ARNT_uc009wme.2_Missense_Mutation_p.H94Y|ARNT_uc010pcl.2_Missense_Mutation_p.H78Y	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	94					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTTCACTGTGATTTTCCCTG	0.498000			T	ETV6	AML									5			14		0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105180	14105180	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:14105180G>A	uc002kst.2	-	2	1572	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCCAGTATGGATTCTTTGAT	0.418000														65			9		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55603645	55603645	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55603645G>A	uc002qix.3	-	18	2121	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	PPP1R12C_uc010yfs.2_Missense_Mutation_p.T627I|PPP1R12C_uc002qiy.3_Missense_Mutation_p.T700I	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	702						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTGGTCTCGGTCAGGGCCTC	0.701000														20			4		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113670619	113670619	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113670619G>A	uc002tij.3	+	0	72	c.30G>A	c.(28-30)gtG>gtA	p.V10V	IL37_uc002tim.3_Silent_p.V10V|IL37_uc002tik.3_Silent_p.V10V|IL37_uc002til.3_Silent_p.V10V|IL37_uc002tin.3_5'Flank	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	10					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ACTCAGGAGTGAAAATGGGCT	0.438000														18			32		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931136	42931136	+	Silent	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42931136T>G	uc002otr.3	-	0	443	c.166A>C	c.(166-168)Aga>Cga	p.R56R	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	56					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAGGGGTCTTTGGTTTGAA	0.522000														135			20		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230829	31230829	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31230829G>T	uc002ebn.2	+	3	990	c.706G>T	c.(706-708)Gag>Tag	p.E236*	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	236					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCCGCAGACTGAGTTCCTCAT	0.652000														22			11		7.03913e-09	7.06514e-09	1	1	0
NRP1	8829	broad.mit.edu	37	10	33475264	33475264	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:33475264T>G	uc001iwx.4	-	13	2738	c.2215A>C	c.(2215-2217)Aaa>Caa	p.K739Q	NRP1_uc001iwv.4_Missense_Mutation_p.K739Q|NRP1_uc001iwy.4_Missense_Mutation_p.K732Q|NRP1_uc009xlz.3_Missense_Mutation_p.K733Q|NRP1_uc001iww.4_Missense_Mutation_p.K551Q	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	739	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TAGCGCAGTTTGACCCTGAGT	0.572000														35			17		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036035	36036035	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36036035G>A	uc003jjz.2	-	6	1469	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	UGT3A2_uc011cos.2_Missense_Mutation_p.S412F|UGT3A2_uc011cot.2_Missense_Mutation_p.S144F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	446						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCGGGTGGGAGCGCAGGAT	0.587000														18			30		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867873	207867873	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207867873A>G	uc001hga.4	+	4	760	c.639A>G	c.(637-639)caA>caG	p.Q213Q	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	213	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGATGATCAAGTGGGCATCT	0.483000														256			7		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821258	151821258	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:151821258C>T	uc004ffp.1	+	8	1433	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	471						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATGGTTTCCAGGCTGATG	0.552000														5			73		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778352	31778352	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31778352G>A	uc003nxh.3	-	1	1581	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	HSPA1L_uc010jte.3_Silent_p.I466I|HSPA1L_uc021yuz.1_Silent_p.I466I	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	466					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTGCTGGAGGGATTCCAGTCA	0.562000														46			50		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180229	117180229	+	Silent	SNP	C	T	T	rs75528968		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117180229C>T	uc003vjd.3	+	7	1077	c.945C>T	c.(943-945)ttC>ttT	p.F315F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	315	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGGGTTCTTTGTGGTGT	0.398000									Cystic Fibrosis					38			27		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784630	143784630	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:143784630C>T	uc011ljv.2	+	2	756	c.339C>T	c.(337-339)ctC>ctT	p.L113L	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_Nonsense_Mutation_p.Q103*	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	113	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTTTTACCTCAAGTGTTGTA	0.522000														59			20		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169866895	169866895	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169866895T>G	uc003fgl.2	-	4	586	c.552A>C	c.(550-552)caA>caC	p.Q184H	PHC3_uc010hws.1_Missense_Mutation_p.Q172H|PHC3_uc011bpq.1_Intron|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Missense_Mutation_p.Q184H|PHC3_uc003fgo.1_Missense_Mutation_p.Q168H	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	172	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGAGATACATTTGAGCTTGGC	0.418000														31			8		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038872	75038872	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75038872C>T	uc001dgg.3	-	13	2741	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	841	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTGCTGCTCCCTCTGCCCC	0.552000														83			60		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47876067	47876067	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47876067C>T	uc010xyn.2	+	7	2198	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	DHX34_uc010elc.1_Missense_Mutation_p.P532S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	617						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGTCCAGTCGCCCTTCACCCG	0.667000														36			22		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184802	118184802	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:118184802G>A	uc003yoh.3	+	7	1222	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	SLC30A8_uc010mcz.3_Missense_Mutation_p.R282Q|SLC30A8_uc003yog.3_Missense_Mutation_p.R282Q|SLC30A8_uc011lia.2_Missense_Mutation_p.R282Q|SLC30A8_uc022bab.1_Missense_Mutation_p.R282Q	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	331					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.V330L(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAAGTGGTTCGGAGAGAAATT	0.507000														61			65		0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20518362	20518362	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:20518362T>G	uc002rds.1	-	1	114	c.96A>C	c.(94-96)aaA>aaC	p.K32N	PUM2_uc002rdt.1_Missense_Mutation_p.K32N|PUM2_uc002rdr.2_5'UTR|PUM2_uc010yjy.1_Missense_Mutation_p.K32N|PUM2_uc002rdu.1_Missense_Mutation_p.K32N|PUM2_uc010yjz.1_Intron	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	32	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTCCATCTTTTGTTGAAT	0.333000														39			15		0	0	1	0	0
C14orf80	283643	broad.mit.edu	37	14	105958614	105958614	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105958614G>A	uc001yrm.3	+	2	524	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	C14orf80_uc001yrj.3_Missense_Mutation_p.V94M|C14orf80_uc001yrk.3_Missense_Mutation_p.V92M|C14orf80_uc001yrn.3_Missense_Mutation_p.V133M|C14orf80_uc001yro.3_Missense_Mutation_p.V133M|C14orf80_uc010tys.2_Missense_Mutation_p.V7M	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	Homo sapiens chromosome 14 open reading frame 80 (C14orf80), transcript variant 1, mRNA.	133										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CCAGGCCCGAGTGCCTCTGGG	0.672000														67			41		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959889	13959889	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:13959889C>T	uc003wwq.3	-	6	1400	c.740G>A	c.(739-741)gGg>gAg	p.G247E	SGCZ_uc010lss.3_Missense_Mutation_p.G200E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	234					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G247E(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACTCACCTCCCCTTCTGTAGA	0.493000														32			41		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819754	110819754	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:110819754C>T	uc003kpf.3	+	10	1247	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	CAMK4_uc010jbv.3_Missense_Mutation_p.R141C|CAMK4_uc003kpg.3_Missense_Mutation_p.R29C	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	338	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGCCTCTTCGCGCCTGGGAAG	0.567000														16			14		0	0	1	0	0
C3orf26	84319	broad.mit.edu	37	3	99536842	99536842	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:99536842G>A	uc003dtl.3	+	0	165	c.19G>A	c.(19-21)Gac>Aac	p.D7N	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Non-coding_Transcript	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	7							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						CGATCTCGGAGACGAGTGGTG	0.647000														1			25		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768880	121768880	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:121768880C>T	uc003pyr.3	+	1	1137	c.887C>T	c.(886-888)tCt>tTt	p.S296F	GJA1_uc011ebo.1_Missense_Mutation_p.S197F|GJA1_uc011ebp.1_Missense_Mutation_p.S84F|GJA1_uc021zel.1_Missense_Mutation_p.S296F	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	296					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AGAAACAATTCTTCTTGCCGC	0.483000														26			25		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999130	92999130	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:92999130C>T	uc022axs.1	-	7	1426	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*	RUNX1T1_uc003yfc.2_Nonsense_Mutation_p.W327*|RUNX1T1_uc010mam.3_Nonsense_Mutation_p.W327*|RUNX1T1_uc003yfe.2_Nonsense_Mutation_p.W317*|RUNX1T1_uc003yfd.3_Nonsense_Mutation_p.W354*|RUNX1T1_uc022axo.1_Nonsense_Mutation_p.W354*|RUNX1T1_uc010mao.3_Nonsense_Mutation_p.W327*|RUNX1T1_uc011lgi.2_Nonsense_Mutation_p.W365*|RUNX1T1_uc022axp.1_Nonsense_Mutation_p.W354*|RUNX1T1_uc022axq.1_Nonsense_Mutation_p.W354*|RUNX1T1_uc022axr.1_Nonsense_Mutation_p.W354*|RUNX1T1_uc022axt.1_Nonsense_Mutation_p.W354*|RUNX1T1_uc022axu.1_Nonsense_Mutation_p.W334*|RUNX1T1_uc022axv.1_Nonsense_Mutation_p.W354*|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Nonsense_Mutation_p.W317*	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	354	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAAGATGTTTCCACTCTTCTG	0.378000														68			54		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992836	21992836	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21992836A>G	uc001wbe.3	-	1	1308	c.1026T>C	c.(1024-1026)acT>acC	p.T342T	SALL2_uc010tly.2_Silent_p.T340T|SALL2_uc010tlz.1_Silent_p.T205T|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.T207T|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	342							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGGAGGCAGTGGCCTCAA	0.597000														20			4		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30097515	30097515	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:30097515G>A	uc001uso.3	-	6	1324	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	313					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAAGTAGGGCATCATGAGC	0.622000														38			45		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762083	101762083	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101762083T>G	uc001pgl.3	-	8	1690	c.1094A>C	c.(1093-1095)aAa>aCa	p.K365T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	365	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGAGTTGTTTTTGGTCCACGT	0.358000														24			23		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853843	122853843	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:122853843G>A	uc003ieg.2	-	1	644	c.570C>T	c.(568-570)atC>atT	p.I190I	TRPC3_uc010inr.2_Silent_p.I117I|TRPC3_uc003ief.2_Silent_p.I117I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	105					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						TGGCCTCTACGATGCGCACGT	0.632000														28			12		0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5642993	5642993	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5642993A>G	uc003sou.3	+	1	1070	c.938A>G	c.(937-939)aAg>aGg	p.K313R	FSCN1_uc003sov.3_Missense_Mutation_p.K35R	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	313					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CACACGGGCAAGTACTGGACG	0.652000														90			10		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333892	123333892	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:123333892G>A	uc003ieo.3	+	9	1409	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ADAD1_uc003iep.3_Missense_Mutation_p.E382K|ADAD1_uc003ieq.3_Missense_Mutation_p.E375K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	393	A to I editase.				RNA processing|multicellular organismal development	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						GACCAGATGGGAAGTGCTTGG	0.423000														121			44		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196753154	196753154	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196753154G>A	uc002utj.4	-	32	5335	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1745	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						GCCACATCTGGAAACCTGGAA	0.393000														7			4		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492318	110492318	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110492318G>A	uc003yne.3	+	54	9381	c.9277G>A	c.(9277-9279)Gaa>Aaa	p.E3093K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3093	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAGCTGCAGAATCTTCTTA	0.363000										HNSCC(38;0.096)				9			4		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150499314C>T	uc003whx.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000														48			41		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586601	143586601	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:143586601G>A	uc003lnm.1	+	2	953	c.324G>A	c.(322-324)agG>agA	p.R108R	KCTD16_uc003lnn.1_Silent_p.R108R	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	108						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468000														18			10		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826175	76826175	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76826175C>T	uc003ugb.3	-	1	781	c.741G>A	c.(739-741)atG>atA	p.M247I	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	247	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AGCCTCCCCCCATGGTCTCCA	0.498000														69			63		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781141	38781141	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38781141T>G	uc003ciq.3	-	13	2145	c.2145A>C	c.(2143-2145)aaA>aaC	p.K715N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	715					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)	AGGCAATGATTTTGAAGACCA	0.433000														27			4		0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007464	209007464	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:209007464C>T	uc002vcp.4	-	2	459	c.426G>A	c.(424-426)ggG>ggA	p.G142G	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	142	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens	p.R141M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GATACTGCCTCCCCCTGTAGT	0.527000														64			47		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421708	50421708	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50421708A>C	uc003daq.3	-	5	609	c.571T>G	c.(571-573)Ttc>Gtc	p.F191V	CACNA2D2_uc003dap.3_Missense_Mutation_p.F191V	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	191					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCTCGATGAAGTCCAGCCTT	0.537000														238			15		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44077616	44077616	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:44077616T>C	uc001mxw.1	+	9	1222	c.1166T>C	c.(1165-1167)gTg>gCg	p.V389A	ACCSL_uc009ykr.2_Missense_Mutation_p.V208A	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	389							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGACCCATGTGATCTGGGGT	0.443000														44			12		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442640	138442640	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:138442640G>A	uc003ihe.4	-	3	3338	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	PCDH18_uc003ihf.4_Missense_Mutation_p.S976F|PCDH18_uc011cgz.2_Missense_Mutation_p.S195F|PCDH18_uc003ihg.4_Missense_Mutation_p.S763F|PCDH18_uc011cha.2_Missense_Mutation_p.S164F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	984	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAAAGGTGGAAAAACTCTT	0.522000														50			24		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890747	51890747	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51890747C>T	uc003pah.1	-	31	4137	c.3861G>A	c.(3859-3861)gtG>gtA	p.V1287V	PKHD1_uc003pai.3_Silent_p.V1287V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1287	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V1287V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCCTTTCCCCACCAAGCTTG	0.587000														70			16		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414299	22414299	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22414299C>T	uc001yuf.3	+	0	838	c.598C>T	c.(598-600)Cct>Tct	p.P200S	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AGTGATTCTTCCTTTGTTGAA	0.418000														43			22		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246743	41246743	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41246743A>C	uc002icq.3	-	9	1037	c.805T>G	c.(805-807)Ttg>Gtg	p.L269V	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.L198V|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.L222V|BRCA1_uc002ict.3_Missense_Mutation_p.L269V|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.L269V|BRCA1_uc002ide.1_Missense_Mutation_p.L100V|BRCA1_uc010cyy.1_Missense_Mutation_p.L269V|BRCA1_uc010whs.1_Missense_Mutation_p.L269V|BRCA1_uc010cyz.2_Missense_Mutation_p.L222V|BRCA1_uc010cza.2_Missense_Mutation_p.L243V|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	269					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCACATGCAAGTTTGAAACA	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				42			16		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770782	94770782	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94770782G>A	uc001ycv.3	-	4	1295	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	397					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.L396P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCCTCGCCAGGAAAAGGCTGC	0.527000														38			36		0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40955210	40955210	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40955210T>C	uc010ojk.2	+	4	653	c.359T>C	c.(358-360)cTt>cCt	p.L120P	ZNF642_uc001cfo.3_Missense_Mutation_p.L119P|ZNF642_uc009vwb.3_Missense_Mutation_p.L119P	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	119	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			GGATATCAACTTTCCAAACCT	0.423000														28			6		0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825484	21825484	+	RNA	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21825484G>A	uc002gyz.3	+	0		c.115G>A								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gccaggacctgaaatgggccg	0.657000														68			28		0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47482503	47482503	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47482503T>G	uc002iox.1	-	6	743	c.670A>C	c.(670-672)Att>Ctt	p.I224L		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	224					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAGTTGGCAATCAGCTCAGCT	0.557000														19			3		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624494	53624494	+	Missense_Mutation	SNP	C	T	T	rs141840932		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:53624494C>T	uc001vhl.3	+	4	1217	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	374	Olfactomedin-like.				cell adhesion	extracellular space		p.S374L(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AACCGCTTTTCATATGCTAAT	0.418000														96			59		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340171	5340171	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5340171T>C	uc003sod.3	+	9	1489	c.1328T>C	c.(1327-1329)cTc>cCc	p.L443P	SLC29A4_uc003soc.3_Missense_Mutation_p.L443P|SLC29A4_uc003soe.3_Missense_Mutation_p.L429P	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	443					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ATGCCCGCCCTCCGTCACCCC	0.662000														279			14		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15976263	15976263	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:15976263T>G	uc001awx.2	+	6	1151	c.938T>G	c.(937-939)cTt>cGt	p.L313R	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	313					proteolysis		aspartic-type endopeptidase activity	p.I312V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCTCTATACTTGAGGAACAG	0.388000														64			9		0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45821198	45821198	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45821198T>C	uc002pbd.3	-	2	406	c.233A>G	c.(232-234)gAt>gGt	p.D78G		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	78	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGACTCCTCATCACCAGCCAC	0.582000														45			5		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46095306	46095306	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:46095306T>C	uc001coq.3	-	11	2575	c.1214A>G	c.(1213-1215)gAg>gGg	p.E405G	GPBP1L1_uc001coo.3_Missense_Mutation_p.E149G	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AAGGCAATTCTCATCATTTTC	0.438000														115			18		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729890	80729890	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:80729890G>A	uc001szd.3	+	37	4549	c.4543G>A	c.(4543-4545)Gat>Aat	p.D1515N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGTGAACAGTGATATCTGCTG	0.403000														3			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525895	176525895	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176525895C>T	uc001gkz.3	+	1	1601	c.437C>T	c.(436-438)gCt>gTt	p.A146V	PAPPA2_uc001gky.1_Missense_Mutation_p.A146V|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	146					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						GATGATGACGCTTATCTCGGC	0.547000														68			68		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480513	73480513	+	Silent	SNP	T	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73480513T>C	uc003xzb.3	+	1	1132	c.544T>C	c.(544-546)Ttg>Ctg	p.L182L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	182					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTGTGGGACTTGCTGGAGAA	0.468000														69			65		0	0	1	0	0
GMFG	9535	broad.mit.edu	37	19	39819138	39819138	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39819138T>A	uc002okz.4	-	6	518	c.408A>T	c.(406-408)gaA>gaT	p.E136D	GMFG_uc002okx.4_3'UTR	NM_004877	NP_004868	O60234	GMFG_HUMAN	Homo sapiens glia maturation factor, gamma (GMFG), mRNA.	136	ADF-H.		E -> K (in dbSNP:rs34035414).		protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AAGACAACTTTTCTTGGAGCC	0.512000														77			19		0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75698650	75698650	+	Silent	SNP	G	A	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:75698650G>A	uc001sxl.3	-	7	695	c.666C>T	c.(664-666)gtC>gtT	p.V222V	CAPS2_uc001sxm.3_Silent_p.V9V|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.4_Silent_p.V9V|CAPS2_uc001sxj.4_Silent_p.V184V|CAPS2_uc001sxk.4_Silent_p.V241V	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	241							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GATCACTGATGACAGCCCTAT	0.323000														3			16		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72861604	72861604	+	Silent	SNP	A	G	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:72861604A>G	uc003tyc.3	-	15	4186	c.3834T>C	c.(3832-3834)gcT>gcC	p.A1278A		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1278					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATCGCAAACCAGCCACCTCAT	0.468000														106			14		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774687	24774687	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24774687A>C	uc003xed.4	+	2	1352	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	NEFM_uc011lac.1_Missense_Mutation_p.K440T|NEFM_uc010lue.3_Missense_Mutation_p.K64T	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	440	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGAAACCCAAGGTGGAAGCT	0.468000														40			13		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378231	14378231	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:14378231C>T	uc003ssz.3	-	21	2221	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	DGKB_uc011jxt.2_Silent_p.K659K|DGKB_uc003sta.3_Silent_p.K678K|DGKB_uc011jxu.2_Silent_p.K677K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	678					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCGTCTTTTCTTAGACTCTC	0.403000														48			39		0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52329528	52329528	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52329528A>C	uc001vfp.3	+	8	1206	c.866A>C	c.(865-867)aAg>aCg	p.K289T	WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	289							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TCCTGCCAAAAGTGTGATCAG	0.443000														67			20		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103322598	103322598	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103322598C>T	uc022ajr.1	-	10	1414	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	RELN_uc022ajq.1_Silent_p.E418E|RELN_uc010liz.3_Silent_p.E418E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	418					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)		CTGACCATTGCTCTTGAATAT	0.418000														52			45		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21104619	21104619	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:21104619C>T	uc001iqi.3	-	21	2573	c.2176G>A	c.(2176-2178)Gct>Act	p.A726T	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	726				RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAGTGGTAGCTCTTCCCAGC	0.318000														32			30		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782227	34782228	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34782227_34782228GG>AA	uc002xfb.3	+	11	1565_1566	c.1394_1395GG>AA	c.(1393-1395)cgg>cAA	p.R465Q	EPB41L1_uc002xeu.3_Missense_Mutation_p.R403Q|EPB41L1_uc010zvo.1_Missense_Mutation_p.R465Q|EPB41L1_uc002xev.3_Missense_Mutation_p.R465Q|EPB41L1_uc002xew.3_Missense_Mutation_p.R368Q|EPB41L1_uc002xex.3_Missense_Mutation_p.R434Q|EPB41L1_uc002xey.3_Missense_Mutation_p.R392Q|EPB41L1_uc002xez.3_Missense_Mutation_p.R403Q	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	465					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGGGGCAACGGTCAGAGGCTG	0.599000														13			15		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487000	125487000	+	Silent	SNP	C	T	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125487000C>T	uc004bmu.1	+	0	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTGTGGCTCCCACCTCACTG	0.522000														75			34		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6680069_6680071delGAA	uc001aob.4	+	2	719_721	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	121					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													---	137	---	---	7	---					
PIAS3	10401	broad.mit.edu	37	1	145580324	145580324	+	Splice_Site	DEL	T	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145580324delT	uc001eoc.1	+	6	895	c.804_splice	c.e6+2	p.R268_splice	PIAS3_uc010oyy.1_Frame_Shift_Del_p.V260fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	268	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGGACGGGTGAGCACAGCT	0.552													---	121	---	---	17	---					
C1orf74	148304	broad.mit.edu	37	1	209956724	209956724	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209956724delG	uc001hhp.1	-	1	499	c.256delC	c.(256-258)cttfs	p.L86fs	C1orf74_uc021pio.1_Frame_Shift_Del_p.L86fs	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	86										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CCAATCTCAAGGATGTGAAGT	0.507													---	23	---	---	18	---					
SATB1	6304	broad.mit.edu	37	3	18428094	18428094	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:18428094delA	uc003cbh.3	-	7	2951	c.1216delT	c.(1216-1218)tcafs	p.S406fs	SATB1_uc003cbi.3_Frame_Shift_Del_p.S406fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.S406fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	406	Matrix attachment region (MAR) DNA- binding.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGATTTCTGAAAGCAAGCCC	0.507													---	32	---	---	13	---					
PLCH1	23007	broad.mit.edu	37	3	155200519	155200519	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:155200519delA	uc021xge.1	-	22	3597	c.3320delT	c.(3319-3321)atcfs	p.I1107fs	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Frame_Shift_Del_p.I1069fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1107					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTTTTCCTTGATTTTCACACC	0.478													---	173	---	---	14	---					
TDRD6	221400	broad.mit.edu	37	6	46656773	46656781	+	In_Frame_Del	DEL	GGGAGGAGA	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46656773_46656781delGGGAGGAGA	uc003oyj.3	+	0	1162_1170	c.908_916delGGGAGGAGA	c.(907-918)tgggaggagagg>tgg	p.EER304del	TDRD6_uc010jze.3_In_Frame_Del_p.EER304del	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	304					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTGCCACCTGGGAGGAGAGGGAGGAGAG	0.622													---	40	---	---	15	---					
ATP6V0D2	245972	broad.mit.edu	37	8	87162450	87162450	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87162450delA	uc003ydp.1	+	5	818	c.749delA	c.(748-750)gagfs	p.E250fs		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	250					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CTCTATCCTGAGGGGTTGCGG	0.478													---	99	---	---	13	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	8	---	---	4	---					
OR4C6	219432	broad.mit.edu	37	11	55433386	55433386	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55433386delC	uc010rik.2	+	0	744	c.744delC	c.(742-744)ttcfs	p.F248fs		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGTATTGTTCTTTGTCCCCT	0.502													---	117	---	---	34	---					
TRIM29	23650	broad.mit.edu	37	11	119998107	119998107	+	Frame_Shift_Del	DEL	C	-	-	rs142021032	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:119998107delC	uc001pwz.3	-	2	1195	c.1071delG	c.(1069-1071)ctgfs	p.L357fs	TRIM29_uc010rzi.2_Frame_Shift_Del_p.L96fs|TRIM29_uc010rzj.2_Frame_Shift_Del_p.L90fs|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	357					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGTCCTCATGCAGCACCTTGG	0.557													---	46	---	---	30	---					
ZNF625	90589	broad.mit.edu	37	19	12256895	12256896	+	Frame_Shift_Ins	INS	-	AGGG	AGGG			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12256895_12256896insAGGG	uc010dyo.2	-	3	508_509	c.335_336insCCCT	c.(334-336)cttfs	p.L112fs	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Frame_Shift_Ins_p.L46fs|ZNF625_uc021upn.1_Frame_Shift_Ins_p.L46fs	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GGTGCCTATTAAGGGATGCATG	0.446													---	56	---	---	28	---					
ZNF28	7576	broad.mit.edu	37	19	53303367	53303367	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53303367delT	uc002qad.3	-	3	1888	c.1731delA	c.(1729-1731)aaafs	p.K577fs	ZNF28_uc002qac.3_Frame_Shift_Del_p.K523fs|ZNF28_uc010eqe.3_Frame_Shift_Del_p.K523fs|ZNF28_uc021uza.1_Frame_Shift_Del_p.K524fs	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGTACGGTTTCTCTCCAG	0.418													---	224	---	---	18	---					
